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Biomedical subjects

E Elst

Publications and source records attributed to E Elst.

5 recordsLinked to original sources
PubMed2003

Reduced perforin expression in systemic juvenile idiopathic arthritis is restored by autologous stem-cell transplantation.

OBJECTIVES: Familial haemophagocytic lymphohistiocytosis (FHL) is a disorder characterized by deficient cytotoxic T-cell function and activated macrophages, owing to a defect in the perforin gene and absent perforin expression. Because symptoms of patients with systemic juvenile idiopathic arthritis (sJIA) are sometimes clinically very similar to those with FHL, we studied whether perforin expression in sJIA patients would be reduced also. METHODS: We determined the perforin expression levels on two subsets of CD8(+) cells (CD8(+)CD28(-)CD45RA(-) and CD8(+)CD28(-)CD45RA(+)) and natural killer (NK) cells from patients with sJIA under conventional treatment as well as before and after autologous stem-cell transplantation (ASCT). RESULTS: CD45RA(-) cytotoxic effector cells of sJIA patients (n=13) express significantly lower levels of perforin than polyarticular juvenile idiopathic arthritis (pJIA, n=9) patients [sJIA mean fluorescence intensity (MFI) 34.6; pJIA MFI 98.0] or control donors (MFI 124.6, n=5). A similar pattern was seen in the CD45RA(+) subset. Also NK cells from sJIA patients expressed significantly less intracellular perforin (sJIA MFI 398.4; controls MFI 972.4). In four patients with sJIA who were treated with ASCT, a clear increase in perforin expression was found at 12 months after ASCT in both cytotoxic effector cell subsets (CD45RA(-) subset before ASCT MFI 13.2; 12 months after ASCT MFI 172.3). CONCLUSION: We conclude that perforin expression can be severely reduced in sJIA. This finding may implicate defective cytotoxicity and haemophagocytosis and could thus explain why sJIA may be complicated by macrophage activation syndrome. ASCT leads to a reconstitution of the (T cell) immune system with a normal expression of perforin.

Adolescent↗
PubMed2003

The physiological and physical determinants of functional ability measures in children with juvenile dermatomyositis.

OBJECTIVE: To study the relationships of muscle strength and maximal oxygen consumption (VO(2peak)) with Childhood Health Assessment Questionnaire (CHAQ) score, Childhood Myositis Assessment Score (CMAS) and Child Health Questionnaire [physical summary (CHQ-PhS) and psychosocial summary (CHQ-PsS)] scores in juvenile dermatomyositis. METHOD: Fifteen patients (age 5-14 yr) participated. CMAS, CHAQ, CHQ, muscle strength and VO(2peak) were measured. RESULTS: Correlations revealed significant relationships between CHAQ and (i) muscle strength (r=-0.72) and (ii) absolute VO(2peak) (r=-0.68); between CMAS and relative VO(2peak) (r=0.73); and between CHQ-PhS and (i) muscle strength (r=0.57) and (ii) relative VO(2peak) (r=0.58). Backward regression analysis showed that muscle strength was the best indicator of variation in CHAQ. Age and relative VO(2peak) were the best indicators for CMAS. Body mass and age were the best indicators for CHQ-PsS. Body mass and muscle strength were the best indicators for CHQ-PhS. CONCLUSION: CMAS, CHAQ and CHQ correlate with muscle strength and VO(2peak). CMAS, CHAQ and CHQ depend on different physical and physiological variables.

Activities of Daily Living↗
PubMed1990

Recurrent haemolytic uraemic syndrome and acquired hypomorphic variant of the third component of complement.

In a girl with recurrent haemolytic uraemic syndrome (HUS), persistently low serum levels of C3 were found. Analysis of complement phenotype revealed a hypomorphic variant of C3 Fast in the patient (C3fS) and a normal heterozygous pattern in both parents and the brother (C3FS). Other complement aberrations in the patient were: the presence of a null gene for C4A and C4B and low serum levels of factor H. The father also had partial factor H deficiency. It is hypothesized that the hypomorphic C3 variant may predispose to recurrent HUS. In the acquired forms the role of uraemia in alteration of C3F should be considered.

Complement C3↗
PubMed1990

Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies.

A patient who presented with most features of lacrimo-auriculo-dento-digital (LADD) syndrome, an autosomal dominant trait, is described. There was no deafness, and anomalies of the external ear and the upper limbs were discrete. Renal anomalies, consisting of progressive caliectasis with stone formation, were revealed by macroscopic hematuria. There were also skeletal anomalies of both feet, a feature not previously described. Renal and distal limb anomalies are probably features of LADD syndrome.

Child↗