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6. Antenatal diagnosis of congenital diseases through cultured amniotic cells: results of 149 amniocenteses

Author

Vamos-Hurwitz, E., Petit, Paul, Liebaers, Ingeborg, Mathy, M., Rodesch, Frédéric, Delhaye, Claude, Hayez, F., Mandelbaum, Israel, and Department of Embryology and Genetics

Subjects
Pregnancy, Pédiatrie, Amniocentesis, Methods, Genetic Diseases, Inborn/diagnosis, Metabolism, Inborn Errors/diagnosis, Genetic Diseases, Inborn -- diagnosis, Humans, Female, pregnancy, Amniotic Fluid -- cytology, Metabolism, Inborn Errors -- diagnosis
Abstract

After discussing the main technical problems related to prenatal diagnosis the authors report on their results with 149 amniotic cell cultures. In 5 of them examination was requested for a suspected inborn error of metabolism. In 6 cases a risk of a severe X linked familial disease led to antenatal sex determination. In the great majority of the cases foetal caryotype was required. Four cases of trisomy 21 and one case of trisomy 13 were detected. All prenatal diagnoses could be confirmed in the foetus or the newborn., info:eu-repo/semantics/published

Published
1976

10. La maladie de Farber. Etude anatomo-clinique et ultrastructurale

Author

Dustin, Pierre, Tondeur, Marianne, Jonniaux, G., Vamos-Hurwitz, E., and Pelc, Sabine

Subjects
Généralités
Abstract

The autopsy of a child aged 21 mth who died of Farber's disease is described. Death was the consequence of extensive pulmonary involvement. This is the 14th description of this disease, and the 11th autopsy case. The ultrastructure of a biopsied s.c. nodule and of fragments of thymus, lung and periarticular nodules fixed shortly after death is described. The typical changes of the disease are present, with a particularly severe lung involvement, infiltration of nearly all the thymus with epithelioid cells, and epithelioid nodules in lymphoid tissue of the intestine and appendix. In the spleen, abnormal cells were mainly present in the subcapsular region. The liver was apparently normal. The typical swollen cells contained inclusions, probably of lysosomal origin, with lipidic lamellae, often paired and frequently showing a marked curvature. These lipids which were surrounded by a strongly stained matrix (Thiery's method) were probably of a mucopolysaccharide nature. Some cells, apparently at an advanced stage, contained very large empty vacuoles, the content of which was dissolved. Biochemical analysis comfirmed the presence of a high level of free ceramides in the s.c. nodules. Farber's disease is thus a lysosomal storage disease, characterized by the nodular aspect of most lesions, their location near the articulations and in the respiratory tract. In this case, the thymus and the lymphoid tissue of the intestine were severely infiltrated. The ultrastructure differs from that of most other lipid storage disease, with some resemblance to Gaucher's disease (glucosyl ceramidosis) and Krabbe's disease lactosyl ceramidosis)., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
1973

13. [Antenatal diagnosis of congenital diseases: indications, limitations, and technic].

Author

Vamos-Hurwitz E, Petit P, Mathy M, Rodesch F, Delhaye C, and Hayez F

Subjects
Amniocentesis methods, Cells, Cultured, Female, Gestational Age, Humans, Karyotyping, Male, Metabolism, Inborn Errors diagnosis, Pregnancy, Sex Determination Analysis, Time Factors, Genetic Diseases, Inborn diagnosis, Prenatal Diagnosis methods
Published
1974

14. Clinical ultrastructural and tissue culture studies in a possible compound Hurler-Scheie case.

Author

Tondeur M, Vamos-Hurwitz E, Cantz M, Cremer N, Libert J, and Pardou A

Subjects
Cells, Cultured, Child, Dermatan Sulfate urine, Female, Heparitin Sulfate urine, Humans, Mucopolysaccharidosis I genetics, Mucopolysaccharidosis I pathology, Glycoside Hydrolases deficiency, Iduronidase deficiency, Liver ultrastructure, Mucopolysaccharidoses diagnosis, Mucopolysaccharidosis I diagnosis
Published
1976

16. [Effect of N-6 2'-O-dibutyryl adenosine 3'-5'monophosphate (dibutyryl cyclic AMP) on the condenstion of the X chromosome into the form of a Barr body].

Author

Tumba A and Vamos-Hurwitz E

Subjects
Cell Line, Humans, Theophylline pharmacology, Bucladesine pharmacology, Sex Chromatin drug effects, Sex Chromosomes drug effects
Abstract

Addition of exogen DB-c AMP in medium of human fibroblasts culture, with 46 XX karyotypes, enables us to observe a high frequency of Barr bodies, about 80 or 85%. This observation suggests that the condensation of the X chromosome in the form of Barr bodies depends on the level of endogen cyclic AMP.

Published
1976

17. [Farber's disease. Anatomoclinical and ultrastructural study].

Author

Dustin P, Tondeur M, Jonniaux G, Vamos-Hurwitz E, and Pelc S

Subjects
Autopsy, Consanguinity, Female, Histiocytes pathology, Humans, Infant, Infant, Newborn, Intellectual Disability, Intestine, Small pathology, Joint Diseases congenital, Joint Diseases pathology, Lipidoses pathology, Lung pathology, Lung ultrastructure, Respiratory Distress Syndrome, Newborn pathology, Spleen pathology, Syndrome, Thymus Gland pathology, Thymus Gland ultrastructure, Lipidoses congenital
Published
1974

18. The cellular lesions of Farber's disease and their experimental reproduction in tissue culture.

Author

Rutsaert J, Tondeur M, Vamos-Hurwitz E, and Dustin P

Subjects
Ceramides metabolism, Culture Techniques, Fatty Acids, Female, Fibroblasts metabolism, Fibroblasts ultrastructure, Histiocytes ultrastructure, Humans, Hydroxylation, Inclusion Bodies ultrastructure, Infant, Lipidoses congenital, Lung pathology, Lysosomes ultrastructure, Skin, Syndrome, Lipidoses pathology
Abstract

In a case of Farber's disease, lysosomal inclusions were shown to contain lamellar, rectilinear, or curvilinear material. In tissue culture, when fibroblasts from the patient were overloaded with ceramides containing nonhydroxylated fatty acids a lysosomal accumulation of small curvilinear structures identical with those observed at autopsy were seen. These inclusions persisted for several weeks after the cells were replaced in a normal culture medium. Normal fibroblasts overloaded in the same experimental conditions showed identical, although less numerous, lysosomal inclusions, which disappeared rapidly in a ceramide-free culture medium. No inclusions were found after overloading normal or pathologic fibroblasts with ceramides containing hydroxylated fatty acids.

Published
1977

19. [Mannosidosis: diagnosis by conjunctival biopsy and enzymatic analysis of the tears].

Author

Libert J, Van Hoof F, Farriaux JP, Tondeur M, Vamos-Hurwitz E, Mandelbaum I, and Danis P

Subjects
Adolescent, Adult, Biopsy, Carbohydrate Metabolism, Inborn Errors genetics, Carbohydrate Metabolism, Inborn Errors pathology, Child, Child, Preschool, Female, Humans, Infant, Male, Mannosidases analysis, Carbohydrate Metabolism, Inborn Errors diagnosis, Conjunctiva ultrastructure, Hydrolases analysis, Mannose metabolism, Tears enzymology
Published
1977

21. [Mucolipidosis of type II (I-cell disease): study of 3 cases].

Author

Walbaum R, Dehaene P, Scharfman W, Farriaux JP, Tondeur M, Vamos-Hurwitz E, Kint JA, and van Hoof F

Subjects
Biopsy, Female, Glycosaminoglycans analysis, Humans, Infant, Leukocytes enzymology, Liver enzymology, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Lipidoses
Published
1972

24. [Type II mucolipidosis (I-cell disease)].

Author

Walbaum R, Dehaene P, Scharfman W, Farriaux JP, Tondeur M, Vamos-Hurwitz E, Kint JA, and Van Hoof F

Subjects
Blood Chemical Analysis, Child, Preschool, Chromosome Aberrations, Chromosome Disorders, Diagnosis, Differential, Female, Fibroblasts enzymology, Histocytochemistry, Humans, Hydrolases analysis, Inclusion Bodies, Infant, Infant, Newborn, Kidney pathology, Liver pathology, Male, Mucopolysaccharidosis I diagnostic imaging, Mucopolysaccharidosis I enzymology, Mucopolysaccharidosis I genetics, Mucopolysaccharidosis II diagnostic imaging, Mucopolysaccharidosis II enzymology, Mucopolysaccharidosis II genetics, Pedigree, Radiography, Sex Factors, Skin pathology, Mucopolysaccharidosis I diagnosis, Mucopolysaccharidosis II diagnosis
Published
1973

25. Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis).

Author

Loeb H, Tondeur M, Jonniaux G, Mockel-Pohl S, and Vamos-Hurwitz E

Subjects
Biopsy, Brain pathology, Brain Chemistry, Child, Preschool, Glycolipids metabolism, Glycosaminoglycans urine, Hepatomegaly, Histocytochemistry, Humans, Intellectual Disability, Liver analysis, Liver pathology, Lymphocytes analysis, Male, Splenomegaly, Mucopolysaccharidoses
Published
1969

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