RESUMO
BACKGROUND: In a rare Gaucher disease, reduced activity of lysosomal b-glucocerebrosidase incompletely blocks glucosphingolipid catabolism. Accumulation of the unhydrolyzed substrate glucosylceramide within lysosomes results in progressive, multisystem Gaucher disease, classified into three types. Both parkinsonism and peripheral neuropathy are observed in cases of putative non-neuronopathic type 1 disease. In the current study we investigated whether the peripheral neural response in type 1 Gaucher disease patients, with no neural manifestations is conditioned by the influence of sex hormones. METHODS: The catalytic activity of b-glucocerebrosidase in peripheral blood leukocytes was determined spectrofluorometrically. Direct sequencing of the GBA1 gene was performed. Somatosensory evoked potentials were recorded after electrical stimulation of the median nerve of both arms. Stimuli of 0.2 ms duration at a frequency of 5 Hz were used. Sex hormones were determined by radioimmunoassay using a gamma scintillation counter. RESULTS: Analysis of the somatosensory evoked potentials revealed significant differences in peak latencies on periphery between men and women in both control and type 1 Gaucher disease groups. Analysis by gender showed significant associations between latencies and sex hormones only in female patients: negative correlation between oestradiol concentration and N9 peak latency, and a strong negative correlation of testosterone levels with all peak latencies on the periphery (N9-N13). CONCLUSIONS: A relationship between testosterone concentrations and the latencies of potentials evoked on peripheral nerves exists only in females with type 1 Gaucher disease. We point out sexual dimorphism in the development of this entity.
RESUMO
BACKGROUND: The aim of this work was to estimate the significance of a dynamic study performed during the first 20 minutes after autologous (111)In-oxinate-platelets injection in patients with chronic immune thrombocytopenic purpura (ITP). Two hypotheses were tested: a) dynamic study indicates the place of platelet sequestration; b) dynamic study reflects the quality of platelet separation and labelling procedure. MATERIAL AND METHODS: Thirty-nine persons were investigated: 25 with shortened platelet life span (ITP), and 14 with normal platelet life span (6 healthy subjects and eight patients with myelodysplastic syndrome--MDS). Platelet blood count on the day of platelet labelling, general yield of platelet labelling (GYL), differential yield of platelet labelling (DYL), platelet life span, dynamic study with initial platelet accumulation in the liver (IPAL), sequential static study for determining the platelet sequestration index (SI) and platelet sequestration site (SS) were investigated. RESULTS: Two types of labelled platelet kinetics were determined in both groups of patients: IPAL < 20% and IPAL > 20%. A statistically significant difference in GYL and DYL was noted between the patients with IPAL < 20% and IPAL > 20%. No significant difference was registered in platelet blood count, life span, SS and SI between the two groups of patients. Both yields of platelet labelling were higher in the group with IPAL < 20%. There was no correlation between IPAL and platelet SI, or between IPAL and platelet SS. CONCLUSIONS: Dynamic study with (111)In-platelets cannot predict platelet sequestration site in ITP patients, but it is a useful and sensitive method of platelet labelling procedure quality control.