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Biomedical subjects

R Girot

Publications and source records attributed to R Girot.

At least 181 records · Page 10Linked to original sources
PubMed1978

[Painful disseminated fibromatosis (systemic hyalinosis): a new hereditary collagen dysplasia].

A case of systemic hyalinosis is reported and the main features of this unusual affection are quoted. The systemic hyalinosis is a syndrome exhibiting the following symptoms : a distressing arthogryposis syndrome, a diffusely stiff skin, some subcutaneous and submucosal fibrotic nodular lymps, repeated suppurative original infections and a facial dysmorphy. Biopsies of nodules show an active proliferation of the connective tissue associated with some peculiar hyalin changes of the collagen fibres. Most cases including the present one die in the first years. The pathogenesis is presently unknown. The systemic hyalinosis seems to be an autosomic recessive heritable disorder and is reasonably settled in the large group of the hereditary diseases of the connective tissue.

Arthrogryposis↗
PubMed1976

[Bone marrow insufficiency in the child and androgen therapy. Preliminary results of a prospective schedule of examination and treatment].

The preliminary results of a prospective study of androgen therapy in the treatment of bone marrow insufficiency in children are reported. This study includes 11 children with the Fanconi syndrome, 21 idiopathic and 3 with toxic aplastic anaemia. Nine patients died early in the course of treatment. Impaired liver function was observed in 28% of patients and virilization in 37% of patients.

Adolescent↗
PubMed1975

[Retroperitoneal fibrosis with cholestatic onset 4 years before malignant lymphoma].

A 9 year old boy presented an "idiopathic" retroperitoneal fibrosis. Fibrosis extended to the liver, compressing the major biliary tree, the portal vein, the urinary tract and the inferior vena cava. The process led two successive bilio-digestive shunts and was controlled after one year corticosteroid treatment. A malignant lymphoma was responsible for the death which occurred 4 years after the initial symptoms of retroperitoneal fibrosis.

Child↗
PubMedDate not supplied

Prevalence of markers for human immunodeficiency virus types 1 and 2, human T-lymphotropic virus type I, cytomegalovirus, and hepatitis B and C virus in multiply transfused thalassemia patients. The French Study Group On Thalassaemia.

The prevalence of markers for human immunodeficiency virus types 1 and 2 (HIV-1, HIV-2), human T-lymphotropic virus type I (HTLV-I), hepatitis B virus (HBV) and hepatitis C virus (HCV), and cytomegalovirus (CMV) was evaluated in a population of 305 multiply transfused thalassemia patients in Belgium, France, and Italy (Sicily). No patients were found positive for HIV-2 antibodies. Two French patients were seropositive for HIV-1, having been infected before systematic blood screening. Antibodies to HTLV-I were found in two Sicilian patients. A positive anti-HCV enzyme-linked immunosorbent assay was found in one-third of the patients and a positive CMV IgG test in two-thirds. Twenty-two percent of the patients in the three countries were uninfected by HBV and were not vaccinated. With the exception of HIV-1, HIV-2, HTLV-I, and anti-hepatitis B surface antigen assays, all markers were encountered more frequently in Sicilian patients than in French or Belgian patients. This study emphasizes the need to improve HBV vaccination coverage in the three countries. At present, data indicate that the introduction of routine screening for HTLV-I should be considered, particularly in Sicily.

Adolescent↗
PubMedDate not supplied

Three-year follow-up of hydroxyurea treatment in severely ill children with sickle cell disease. The French Study Group on Sickle Cell Disease.

PURPOSE: To observe the safety and efficacy of hydroxyurea (HU), a drug that stimulates fetal hemoglobin (Hb F) production, in previously severely ill children with sickle cell disease. PATIENTS AND METHODS: HU was given in an uncontrolled study to 35 children with sickle cell disease, aged from 3 to 20 years, suffering from frequent painful crises. Mean duration of treatment was 32 months (range: 12-59 months). RESULTS: HU induced an increase in Hb F levels in all children out one; this increase was maximal after 9 months of treatment, was largely sustained thereafter, and was related to HU dose and inversely to patients' age. We also noted an apparent reduction in crisis, which occurred principally after 3 months of therapy and did not seem strictly correlated with the rise in Hb F level. No serious hematopoietic complication was observed. Growth curves and sexual development were not modified. CONCLUSION: Our data support the efficacy of HU in reducing painful events in children with sickle cell disease. Short- and middle-term tolerances are good. Thus, we think that HU can be given to children affected by frequent and severe painful crises. We recommend, however, very cautious use of this drug, because its long-term effects in children are still unknown.

Adolescent↗
PubMedDate not supplied

Hematologic disorders following prolonged use of intravenous fat emulsions in children.

Abnormalities in hematologic parameters, associated with prolonged utilization of intravenous fat emulsion (IVFE), were observed in seven children on long-term cyclic total parenteral nutrition (TPN). All patients were receiving IVFE (Intralipid 20%) 1 to 2 g/kg/24 hr as part of TPN, during 3 to 18 months. Recurrent thrombocytopenia occurred in all seven patients. Platelet lifespan, as measured with 111 Indium was reduced. Sea-blue histiocytes containing granulations and hemophagocytosis were seen on bone marrow smears. Scans taken after injection of autologous erythrocytes labeled with technetium-99 showed bone marrow sequestration of these cells. Taken together, this constellation of hematologic abnormalities suggests that long-term IVFE administration induces hyperactivation of the monocyte-macrophage system.

Adolescent↗
PubMedDate not supplied

Two fetal hemoglobin variants affecting the same residue: Hb F-Emirates [G gamma 59(E3)Lys-->Glu] and Hb F-Sacromonte [G gamma 59(E3)Lys-->Gln].

Two fast-moving fetal hemoglobin variants were discovered in hematologically normal newborn babies; the first originated in the United Arab Emirates and the second in France. The structural study, carried out by miniaturized techniques of protein chemistry, showed that these two mutations affected the same residue of the G gamma chain, the lysine at position 59(E3) was replaced by glutamic acid in Hb F-Emirates, and by glutamine in Hb F-Sacromonte.

Amino Acid Sequence↗
PubMedDate not supplied

F reticulocytes assay: a method to evaluate fetal hemoglobin production.

Production of fetal hemoglobin (Hb F) involves molecular as well as cellular aspects as, among red blood cells, it is restricted to a specific population referred as the F cells. Thus understanding the mechanisms involved in persistence or re-emergence of Hb F production in various inherited or acquired conditions requires the measurement of both Hb F and F cells. In addition, in disorders with a hemolytic component, including sickle cell disease (SCD), because of a probable preferential survival of F cells as compared to non-F cells, the true parameter of F cell production is the F reticulocyte count. The F cells/F reticulocytes ratio then selectively reflects this preferential survival. Here we describe an original immunofluorescence microscopy assay that permits the simultaneous measurement of F cells and F reticulocytes. For this assay to be widely usable, we chose to use commercially available monoclonal antibodies.

Anemia, Sickle Cell↗
PubMedDate not supplied

[Influence of alpha-thalassemia on the hematologic expression of homozygote drepanocytosis].

A Madagascan child was followed for an homozygous sickle cell disease from the age of 7 to the age of 9 years. The clinical course of the disease, quite moderate till the age of 7, was then made more severe because of frequent painful crises during the observation period. Genetical and haematological data of the patient and his family showed that the two parents, heterozygote for sickle cell disease, and the homozygote patient, also had alpha-thalassemia. In the propositus patient, the association of the two disorders accounts for the quite moderate anaemia (haemoglobin level between 10 and 12 g/dl) and the persistent microcytosis. So, a microcytosis without iron deficiency and an haemoglobin level above 9 g/dl should suggest such an association.

Anemia, Sickle Cell↗
PubMedDate not supplied

[Relapsing erythroblastopenia. A case followed during 22 years (author's transl)].

Relapsing erythroblastopenia has been observed in a girl from when she was a baby to 22 years of age. The three episodic crisis of erythroblastopenia occurred when she was 2 months, then 6 and 19 years old, and recovered spontaneously after periods of 3, 18 and 30 months respectively. The authors did not find any cause for the disease and the various treatments were useless. This case presents hardly any relation to the rare relapsing erythroblastopenias reported in the literature.

Adolescent↗