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Biomedical subjects

R Girot

Publications and source records attributed to R Girot.

At least 163 records · Page 9Linked to original sources
PubMed1982

[Glucagon-induced neutrophil mobilization (author's transl)].

In 19 normal subjects an increase in the number of circulating neutrophils was observed after intramuscular injection of 1 mg glucagon. The response began at the end of the 1st hour following the injection and persisted beyond the 8th hour, with a peak between 2 and 5 hours. No response was obtained in patients with bone marrow aplasia, either primary or associated with acute leukaemia. In 20 patients with chronic primary neutropenia, the degree of response was proportional to the percentage of medullary polymorphonuclears. A comparison between the kinetics of the glucagon-induced granulocyte response and that of the response induced by other neutrophil mobilizing agents suggested that glucagon acts by releasing granulocytes from the bone marrow reserve compartment. The finding that an infusion of dibutyryl cyclic AMP results in granulocyte mobilization suggests that the effects of glucagon are mediated by cAMP at cell level. Since the glucagon response test is harmless and gives rapid and pronounced results, it may be useful in investigation of patients with neutropenia. In addition, the glucagon-induced granulocyte mobilization might improve leucocyte yield in blood donors used for transfusion in agranulocytosis.

Adolescent↗
PubMed1982

[Thalassaemia intermedia. Clinical and laboratory study. Therapeutic suggestions (author's transl)].

The clinical and laboratory criteria which distinguish thalassaemia intermedia (T.I.) from thalassaemia major were analyzed in a series of 30 patients with homozygous beta- thalassaemia, 8 of whom had T.I. The appearance of the first symptoms after the age of 2 years, the moderate spleen enlargement, the haemoglobin levels approaching 8 g/100 ml and the response to moderate transfusions over 1-year observation period were in favour of T.I. Since patients who had transfusions were clinically better than those who had none, it is suggested that T.I. patients should be treated with regular transfusions and iron chelating agents.

Age Factors↗
PubMed1982

Calcium phosphate metabolism and bone disease in patients with homozygous thalassemia.

Calcium and phosphate metabolism were studied in 22 patients with homozygous thalassemia. The overall results showed no significant difference for serum calcium, phosphorus, alkaline phosphatase, immunoreactive parathyroid hormone, or 25-hydroxyvitamin D between thalassemic and control children. However, during the winter, serum 25-hydroxycholecalciferol levels were very significantly decreased in thalassemic children. A study of the hands showed thin metacarpal cortices related to increased resorption. Histomorphometric study of four iliac bone biopsies showed normal osteoclastic resorption and decreased bone formation. Prussian blue staining and x-ray electron microprobe analysis showed iron deposits inside the bone. Whether this finding is critical in the pathogenesis of the bone disease in unknown.

Adolescent↗
PubMed1982

Prognostic factors and evolution of acquired aplastic anemia in childhood. A prospective analysis of 48 androgen-treated cases.

Forty-eight cases of acquired aplastic anemia in children were analyzed in comparison to 26 cases of genetic aplastic anemia and 483 cases of aplastic anemia in adults. All were gathered from similar institutions and all were similarly followed and treated with androgens. The following conclusions were drawn: 1) Initial severity is greater in children than in adults, and is greater in acquired than in genetic aplastic anemia; 2) even in cases of similar initial severity, the early death rate is higher in children than in adults; 3) a multiparametric index allows the correct prediction of short-term evolution in 70% of the cases and thus aids in providing an indication for bone marrow graft; its sensitivity is similar to that of the classical parameters proposed by Camitta, et al., but its specificity significantly higher; 4) most deaths occurred during the first 3-4 months and the chance for long-term improvement appears similar in the more severe than in the less severe cases if they survive this delay; 5) some data (relapse after androgen withdrawal and androgen-dependence and failure of corticoid therapy alone) suggest that androgen therapy in children is useful, as it is in adults, and that corticosteroids do not modify the course of the disease at its usual dosage (1 mg/kg/day); and 6) very few side effects, particularly concerning height, of androgens were noted in the survivors at adult age after long-term androgen therapy prescribed before puberty.

Adolescent↗
PubMed1982

A shortened variant of red cell membrane protein 4.1.

In a healthy 32-yr-old woman with normal red cell morphology, a shortened variant of cytoskeletal membrane protein 4.1 is described at the heterozygous state. One haploid set of protein 4.1 migrates below protein 4.2 and displays a reduction in mass of approximately 8500 with regard to the normal haploid set. The shortening corresponds to a deletion of about 75 amino acids and concerns both subcomponents a and b of protein 4.1. It seems to involve some phosphorylation site(s). It was transmitted to the proposita's son (who inherited elliptocytosis with band 4.1 deficiency from his father). To our knowledge, the present abnormality is the first unequivocal variant of erythrocyte membrane protein 4.1 recognized up to now.

Adult↗
PubMed1982

[Monitoring and appraisal of the effects of blood transfusion and iron chelation in thalassemia major].

A total of 21 patients with thalassaemia major between 2 and 20-years-old were on a "hypertransfusion" regimen for 1 to 14 year periods. The use of the transfusion quotient (TQ) allowed a precise survey of the blood requirement. In all splenectomized patients the TQ was between 1 and 2; TQ increased and was always greater than 2 when patients became hypersplenic. Of the 21 regularly transfused patients, 12 had iron chelation therapy by continuous subcutaneous desferrioxamine (DF) injection (1 g over 8 to 12 h at home, nightly). The iron balance was negative for 7 patients, equilibrated for 1 and positive for 4 patients. All patients receiving more than injections of DF weekly had a negative balance; the variation of the serum ferritin level correlated with the iron balance (r = 0,77; P less than 0,01). The beneficial effects of the treatment were improvement in social and professional activity, in growth and puberty development and attenuation of the skull and face dysmorphia. Monitoring ferritin is a simple way to estimating the effects of chelation on iron overload.

Adolescent↗
PubMed1981

Analysis of the red cell membrane in a family with hereditary elliptocytosis--total or partial of protein 4.1.

In a 12-year-old boy carrying a clinically silent elliptocytosis, we observed a total lack of red cell membrane band 4.1. Band 4.1 was partially absent in the father who also displayed a clinically silent elliptocytosis and, remarkably, in the mother although she presented normal discocytes. Band (2 and 2.1.) phosphorylation was sharply reduced in the three persons examined. In the propositus and his mother, but not in his father, a clearly phosphorylated band appeared at the level of band 4.2. We suggest that the father and the mother carry two distinct alleles affecting differently the interactions within the spectrin-actin protein 4.1 complex. The father's allele is elliptocytogenic in the heterozygous state and, among other molecular alterations, prevents the attachment of protein 4.1. The mother's allele is morphologically silent in the heterozygous state, yet it also affects the binding of protein 4.1, possibly because the latter is shortened. The propositus, being doubly heterozygous, has the same morphological phenotype as his father, but his protein 4.1 electrophoretic phenotype is the addition of both parental phenotypes. The distinct phosphorylation patterns in the region of bands 4.1 and 4.2 are also consistent with the two-allele hypothesis.

Ankyrins↗
PubMed1981

Hereditary nephritis associated with May-Hegglin anomaly.

Hereditary nephritis associated with hematologic abnormalities seems to be an exceptional occurrence. We have observed a family which nephritis was combined with May-Hegglin anomaly. A girl and her father suffered from proteinuria; a paternal uncle received kidney graft; a paternal grand aunt died on periodic hemodialysis. The girl, the father and the uncle presented macrothrombocytopenia (40-100 X 10(9)/l, size 4-8 mum) with prolonged bleeding time (which precluded renal biopsy) and cytoplasmic inclusions in neutrophils (Döhle bodies). These hematologic abnormalities characterize the May-Hegglin anomaly. This kind of association has not been reported so far.

Bleeding Time↗
PubMed1980

[Treatment of iron overload due to repeated transfusions with subcutaneous infusions of desferrioxamine (author's transl)].

The urinary excretion of iron has been studied in 23 cases of iron overload (20 thalassemia major, 2 pure red cell aplasia, 1 congenital sideroblastic anemia) after 12 hour subcutaneous infusions of 0.5 g, 1 g, 2 g and 3 g of desferrioxamine (D). The urinary excretion of iron was correlated with the dose of D and the serum ferritin. Continuous subcutaneous infusion of 0.5 g and 1 g D over 12 hours increased the mean urinary iron excretion from 6.6 to 12 mg/day and 9.9 to 18 mg/day respectively compared with intramuscular injection of a similar dose. The test doses of D have been used to determine the dose of D necessary to balance the iron received in transfusion and the iron excreted in the urine. Five children treated for between 7 and 12 months demonstrated that the treatment is effective. Serum ferritin levels decreased and the children were in negative iron balance. Using a portable constant infusion pump subcutaneous infusions can be given at home.

Adolescent↗
PubMed1980

[Severe blood coagulation disorder as the first sign of a peritoneal hemangio-endothelioma: a new therapeutic approach (author's transl)].

The authors describe a 3 1/2 month old infant with hemangio-endothelioma and a severe blood coagulation disorder. The tumor was inoperable and the severe blood coagulation disorder posed considerable therapeutic problem. After treatment with massive amounts of blood clotting factors, an antifibrinolytic drug and radiotherapy, the child's condition improved.

Blood Coagulation Disorders↗
PubMed1978

Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis.

Two new deficient glucose-phosphate-isomerase (GPI) variants have been described in patients suffering from severe chronic hemolytic anemias. The patients' parents were consanguineous, such that the patients were true homozygotes for the mutated GPI genes. In both cases the main cause of the defect in enzyme activity was molecular instability of the mutated GPI molecules, their catalytic activity being nearly normal. GPI 'Paris' was characterized by a slow electrophoretic migration and, above all, a drastically altered affinity for the substrates glucose-6-phosphate (decreased) and fructose-6-phosphate (increased). GPI 'Enfants malades' exhibited a slightly reduced electrophoretic mobility, an abnormal curve of the activity in function of pH, and an abnormal ratio of maximal velocity in the backward direction (fructose-6-phosphate leads to glucose-6-phosphate) to that in the forward direction (glucose-6-phosphate leads to fructose-6-phosphate). No clear relation could be proved between the kinetic abnormalities of the mutant GPI variants on the one hand and the metabolic changes of the GPI-deficient red cells and the severity of hemolysis on the other. Finally we emphasized the possible role of the impairment of hexosemonophosphate pathway in the reduction of viability of the GPI-deficient red cells.

Adolescent↗
PubMed1978

[Adenomegalic cytophagic sinusal histiocytosis. Morphological and immunologic study of a case].

The case of a 14-year-old boy of North-African origin, presenting a phagocytic sinus histiocytosis is reported. The main features of this now classical disease are illustrated: its localization to the neck, its chronicity, the fact that it is well tolerated, the pseudotumoral appearance of the adenomegaly as well as the intensive phagocytic (essentially lymphocytophagic) activity of the sinus macrophages. The bringing to light in a picture of hyperimmunity of an elevated percentage of antibodies against the measles and EB viruses, associated with a temporary depression of the cellular immunity, suggest that this lymphophagocytosis could be controlled and facilitated by preferential opsonization of lymphoid cells carrying on their membrane the antigen of the virus or viruses initially responsible.

Adolescent↗
PubMed1978

Human red blood cell membrane adenylate cyclase in sickle-cell disease.

The basal and the NaF-stimulated activities of human red blood cell membrane adenylate cyclase were found to be 5.3 +/- 0.8 (SE) and 219 +/- 76 (SE) pmol . mg-1 . min-1, respectively. Both activities were increased in nine patients with homozygous sickle-cell disease. There was no apparent correlation between this increase and the increase in the reticulocyte count.

Adenylyl Cyclases↗