Laura GROSEANU, Florian BERGHEA, Andra BALANESCU, Denisa PREDETEANU, Violeta BOJINCA, Ioana SAULESCU, Cosmin CONSTANTINESCU, Daniela OPRIS, Mihai ABOBULUI, Andreea BORANGIU, Maria-Magdalena NEGRU, Violeta VLAD and Ruxandra IONESCU

ABSTRACT

Objective: to identify the particularities of the clinical phenotype of endothelial dysfunction in a lot of Romanian patients from a reference center and compare it to data reported by international registries.

Material and methods: 51 patients were included in a cross-sectional study. The patients were evaluated for the pattern of disease, main visceral involvement, serum markers of disease.

Results: 41.2% patients had history of digital ulcers, 27.45% had pulmonary arterial hypertension; cardiovascular involvement also included: diastolic dysfunction in 31.1% of the patients, global systolic dysfunction in 9.8%, rhythm and conduction disturbances in 19.6%, peripheral vascular disease in 19.6%. Scleroderma renal crisis was identified in 2 patients.

Conclusions: Vascular complications are a major cause of morbidity and mortality in systemic sclerosis. Earlier therapeutic intervention demands improved screening and diagnosis in all cases.

Full text | PDF

Laura GROSEANU, Florian BERGHEA, Andra BALANESCU, Denisa PREDETEANU, Violeta BOJINCA, Ioana SAULESCU, Cosmin CONSTANTINESCU, Daniela OPRIS, Mihai ABOBULUI, Andreea BORANGIU, Maria-Magdalena NEGRU, Violeta VLAD and Ruxandra IONESCU

ABSTRACT

Objective: to identify the particularities of the clinical phenotype of endothelial dysfunction in a lot of Romanian patients from a reference center and compare it to data reported by international registries.

Material and methods: 51 patients were included in a cross sectional study. The patients were evaluated for the pattern of disease, main visceral involvement, serum markers of disease.

Results: 41.2% patients had history of digital ulcers, 27.45% had pulmonary arterial hypertension; cardiovascular involvement also included: diastolic dysfunction in 31.1% of the patients, global systolic dysfunction in 9.8%, rhythm and conduction disturbances in 19.6%, peripheral vascular disease in 19.6%. Scleroderma renal crisis was identified in 2 patients.

Conclusions: Vascular complications are a major cause of morbidity and mortality in systemic sclerosis. Earlier therapeutic intervention demands improved screening and diagnosis in all cases.

Full text | PDF

Elena Camelia BERGHEA, Luis O. POPA, Monica I. DUTESCU, Mihaela MEIROSU, Ileana C. FARCASANU, Florian BERGHEA, Constantin BARA and Olivia M. POPA

ABSTRACT

Introduction: Leukotriene C4 synthase (LTC4S) gene –444A/C polymorphism has been implicated in susceptibility to asthma, but a large number of studies have reported inconclusive results. The aim of this study was to investigate the association between the -444A/C polymorphism of LTC4S gene and asthma, asthma phenotypes (aspirin intolerant/tolerant asthma) and different characteristics of the patients.

Material and methods: We included 106 patients with asthma (60 with aspirin tolerant asthma - ATA, 46 with aspirin intolerant asthma - AIA) and 103 controls. All the subjects were genotyped for LTC4S-444 A/C by Real-Time PCR. We assessed the association of LTC4S promoter polymorphism with asthma and its phenotypes and with clinical and biological characteristics of asthmatic patients.

Results: We did not find a significant association between the studied polymorphism and asthma, but the minor allele tended to be more frequent in AIA patients. We found a significant association between the minor allele C and lower levels of serum total immunoglobulin E and eosinophils, suggesting a possible role of –444A/C LTC4S polymorphism as modulating factor of allergic inflammation in asthma.

Conclusion: The results show that LTC4S -444A/C SNP is not associated with susceptibility to asthma in Romanian patients, but could influence asthma phenotype, namely aspirin intolerant asthma.

Keywords: asthma, aspirin intolerance, leukotrienes, single nucleotide polymorphisms.

Full text | PDF