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Biomedical subjects

F Freycon

Publications and source records attributed to F Freycon.

At least 73 records · Page 4Linked to original sources

[Rare nutritional deficiency anemia: deficiency of copper and vitamin E].

Copper deficiency anemia occurs in some specific situations if supplemental copper is not given: low birth-weight premature infants fed milk only, protracted total parenteral nutrition, chronic diarrhea with severe malnutrition. Severe neutropenia precedes the onset of sideroblastic anemia. Iron therapy is ineffective. Diagnosis is established by the low serum copper concentrations, the delayed osseous anomalies, and the dramatic response to copper therapy. Low serum vitamin E concentrations may be found in low birth-weight premature infants aged six to ten weeks with hemolytic anemia. In such cases, vitamin E therapy is effective. This condition occurs more often in infants fed milk formulas without supplemental copper and in infants given high doses of iron. Whether vitamin E deficiency causes anemia is still an open question. Preventive vitamin E supplementation is only partly effective.

Anemia↗

Melanocyte-lymphocyte interaction in human graft-versus-host disease.

Pigmentary disorders in chronic human GvHD comprise reticular or diffuse hyper- and hypopigmentation and seem to result from an interaction between lymphocytes and melanocytes. This interaction could be visualized by standard microscopy with a specific staining for melanin. The main ultrastructural findings were, in hyperpigmented areas: broad contact between melanocytes and lymphocytes, numerous and packed melanosomes, presence of cytoplasmic lipid droplets; in hypopigmented areas: disintegrating melanocytes with large intercellular spaces, small melanosomes, numerous lipid droplets, vacuolated organelles, as well as condensed and convoluted nuclei. Different hypotheses to explain the dysfunction of melanocytes are presented.

Adolescent↗

Burkitt-type lymphoma in France among non-Hodgkin malignant lymphomas in Caucasian children.

In a retrospective analysis of 87 cases of Caucasian childhood non-Hodgkin malignant lymphoma (NHML) from Lyon, France, all the case were diffuse lymphomas, but 47 were diagnosed as monomorphic small non-cleaved NHML, pathologically indistinguishable from Burkitt's lymphoma (BL). BL could then be the most frequent childhood lymphoma in France. This homogeneous series allows better definition of the characteristics of BL within NHML. Age distribution is similar to that of endemic BL, with a sex ratio of 3.7/1. Abdominal masses are initially present in 68% of the cases, whereas jaw is involved in only 4%. The disease is characterized by its overwhelming evolution in the absence of therapy. However, complete remission (CR) is usually obtained after the first chemtherapy regimen. Most relapses occur at 3-8 months. Death could be related to cerebrospinal fluid (CSF) involvement, local recurrence or secondary marrow involvement. Ninety per cent of the patients alive with no evidence of disease (NED) 8 months after CR can be considered as definitely cured. Our study on Caucasian children with NHML indicates that, from histological and clinical criteria, nearly half the cases are very similar to African BL. Even though EBV rarely associated with our cases, BL could be a worldwide lymphoma.

Abdomen↗

[Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)].

Clinical, radiological and biochemical findings are described in a male newborn with type VII mucopolysaccharidosis (betaglucuronidase deficiency). A metabolic storage disease was likely at birth, because of morphological and radiological features and granulated cells in blood and bone marrow. A study of glycosaminoglycans has been performed in urine and various organs post mortem. Enzymatic deficiency was found in serum, leucocytes, skin fibroblasts, liver, spleen and kidneys. Low activities were present in both parents.

Bone and Bones↗

Café au lait spots in ataxia-telangiectasia (A.T.). Histochemical and ultrastructural study in one case.

Café au lait spots appear to represent one of the cutaneous features of Ataxia-telangiectasia (A.T.). At the cellular level, they are characterized by an epidermal hypermelanosis with a normal number of melanocytes. At the subcellular level, two basic abnormalities are observed: (1) an increase in the synthesis of melanosomes; (2) a modification of their distribution within the epidermal keratinocytes. Numerous pendulous melanocytes project into the upper dermis. Altered melanocytes are also observed. These show mitochondrial dilatation, melanosomal autophagic vacuoles, as well as lipid droplets. These abnormalities are not observed in the normal surrounding skin. The significance of these observations is discussed and stress is placed on the difficulty in establishing a differential diagnosis of café au lait spots, based on their histoenzymological and ultrastructural features.

Ataxia Telangiectasia↗

beta+ -Thalassemia intermedia. Genetic and biochemical study of a family including 3 cases.

3 cases of thalassemia intermedia have been found in the same family. The parents are not consanguineous but both come from the same town of Calabria (Italia). The mother is a heterozygote for beta-thalassemia, as well as the father whose globin chain synthesis is nevertheless balanced, thus suggesting an association with alpha-thalassemia. This hypothesis is confirmed by the fact that one of the offspring shows the typical characteristics of alpha-thalassemia heterozygosity. The 3 subjects with thalassemia intermedia are synthesizing the beta-globin chain in a proportion higher than that expected from the level of Hb A in peripheral blood. In 2 of them, the globin chain biosynthetic ratio measured in the blood reticulocytes is not significantly different from that usually observed in thalassemia major of either the beta o or beta+ type. In the third subject the globin chain synthesis is slightly less unbalanced probably because an alpha-thalassemia is also present. This suggests that factors other than a lesser imbalance in globin chain synthesis are involved in the occurrence of thalassemia intermedia. One of these factors could be a better survival of cells richer in Hb F than in Hb A, since these cells must have a lesser excess of alpha-chains.

Adolescent↗