[Cooley's syndrome in a Togolese nursing infant. Clinical and biological considerations]. / La maladie de Cooley chez un nourrisson togolais. Considérations cliniques et biologiques.

Several possible diagnoses are proposed to explain the symptomatology observed in a slightly jaundiced 10 month-old suckling infant suffering from fever and anaemia. Major beta-thalassaemia in its most severe form (Cooley's syndrome) proved to be the correct diagnosis. The importance of family background is stressed for these haemolytic cases.

Detection of haemoglobinopathies at birth in Togo.

The incidence and nature of haemoglobinopathies were investigated at birth in Togo, using isoelectric focussing on 385 samples of umbilical cord blood. Abnormalities were found in 37.6% of blood samples: Hb A/S, 18.7% (0.5% with Hb Bart's); Hb A/C, 8.9% (0.3% with Hb Bart's); Hb S/C, 1.3% (0.3% with Hb Bart's); Hb S/S, 1%; Hb C/C, 0.3%; isolated Hb Bart's, 5.7%; gamma chain variants 0.8%; acetyl Hb F greater than Hb A, 1%. To date now, no systematic screening of Hb abnormalities has been performed in Togo. Our results showed that Hb S is the principal abnormal Hb found in the population which we studied, with a sickle cell gene frequency of qs = 0.110 and an Hb C gene frequency of qc = 0.053. Our work also confirmed the presence of alpha and beta + thalassaemias (acetyl Hb F greater than Hb A) in Togo. One of the advantages of investigating umbilical cord blood by isoelectric focusing is that detection of Hb S/S and Hb S/C (which had an incidence of 2.3% in our study) can be carried out at birth, allowing the children to be taken care of as soon as possible. About 150,000 children are born each year in Togo, and the infant mortality is estimated at 5 per 100 live births in Lomé and at 10 per 100 live births outside the capital.

[Determination of synovial fibronectin by laser nephelometry. Its diagnostic value in rheumatology]. / Dosage de la fibronectine synoviale par néphélométrie laser. Son intérêt diagnostique en rhumatologie.

The object of the present study was to define the optimal conditions for the quantitative determination of fibronectin in synovial fluid by laser nephelometry and to determine the diagnostic importance of this analysis in rheumatology. The results show that this technique is sensitive (threshold sensitivity is 70 mg/l if the sample is diluted 1/30 and 5 mg/l for a sample diluted to 1/2), accurate, reproducible (coefficient of variation less than 10%), specific, simple and rapid. The response is linear for dilutions from 1/30 to 1/240. Fibronectin P and fibronectin S were determined in 104 subjects who had contracted an arthropathy; 26 cases of rheumatoid polyarthritis, 43 mechanical arthropathies and 35 cases of non-rheumatoid arthritis. the plasma fibronectin does not vary significantly from one group of arthropathies to another but the mean value for the total population of arthropathies is significantly lower than that for a control group. In the synovial fluid the mean value for fibronectin in the patients with rheumatoid arthritis (583 + 76 mg/l) is very considerably higher than that in non-rheumatoid (379 + 58 mg/l) or mechanical (367 + 32 mg/l) arthritis patients. Thus, the determination of synovial fibronectin may provide useful information for the etiological diagnosis of inflammatory arthropathies.

[Assay of glycosylated hemoglobin by agar gel electrophoresis in an acid pH. Value of the determination of the stable fraction in clinical biology]. / Dosage de l'hémoglobine glycosylée par électrophorèse sur gel d'agar à pH acide. Intérêt de la détermination de la fraction stable en biologie clinique.

Total glycosylated haemoglobin (Hbg) has been determined by electrophoresis on agar gel, using commercially available materials. This method is simple and unaffected by changes of temperature or buffers pH. With a performing densitometer, its coefficient of variation is less than 4% within batch, less than 6% between batch. There is a significant correlation with the small column separation technique (r = 0,93; p less than 0,001). The labile glycosylated haemoglobin is removed by 5 methods: 18 hrs dialysis of haemolysate at 4 degrees C; 30 mn incubation of whole-blood with semi-carbazide and aniline at pH 5 and 37 degrees C; 6 hrs saline incubation of erythrocytes at 37 degrees C; 18 hrs saline incubation of erythrocytes at 25 degrees C; 7 days storage at 4 degrees C. The two first methods appear to be the best. In our study we can conclude that: 1) In basal conditions the size of the labile fraction of Hb g was close to the limits of variability of the methods (less than or equal to 10%). 2) Therefore, except for brittle diabetics, it is not necessary to determine the labile fraction routinely.

[Assay of plasma fibronectin in clinical biology: comparison of nephelometric and turbidimetric technics]. / Dosage de la fibronectine plasmatique en biologie clinique: comparaison des techniques néphélométrique et turbidimétrique.

The aim of this study was to determine the optimal conditions for the assay of plasma Fn by laser nephelometry, to compare the nephelometric and turbidimetric techniques and to confirm the influence of various parameters on the Fn concentration. The results reveal that both techniques are sensitive (threshold of sensitivity: 20 mg/l with laser nephelometry, 125 mg/l with turbidimetry), reproducible (coefficient of variation of less than 10 p. cent), specific, simple and rapid. The interpretation of the results must take into account the influence of various factors on the Fn concentration. Fn is present in lower concentrations in the serum and the percentage of serum Fn to the plasma concentration varies from one sample to another in the same patient. The optimal conditions for the assay include collection of the plasma on EDTA, storage of the samples at - 20 degrees C and incubation of the sample at 37 degrees C prior to the assay. There is a relationship between the concentration of Fn and the sex and age of the subject. There is a significant difference between the sexes between the ages of 18 and 40, which is no longer seen after the age of 50. The ability to assay plasma Fn by rapid, specific and sensitive techniques enables us to evaluate the capacity of response of the reticulo-endothelial system in conditions of severe sepsis.