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Biomedical subjects

C H Schreuder

Publications and source records attributed to C H Schreuder.

6 recordsLinked to original sources
PubMed1989

[Thrombocytopenia and absent radii syndrome (TAR). Case report and literature discussion].

A girl is described with the thrombocytopenia and absent radii (TAR) syndrome. The literature concerning this rare, autosomal recessive inherited syndrome is discussed. The main characteristics are bilateral radius aplasia in which the thumbs are present in combination with a a- or hypomegakaryocytic thrombocytopenia. Many other anomalies and associated disorders are described in the literature, especially in the haematological, skeletal, cardiac and intestinal fields. The treatment is mainly directed to the haemorrhagic diathesis and the orthopaedic problems. It is suggested that the mortality-rate--mainly a consequence of haemorrhage--which used to be 30-40%, has diminished thanks to the evolution of platelet transfusion therapy.

Chromosome Aberrations↗
PubMed1982

Group-specific auto-immune antibodies directed to granulocytes as a cause of chronic benign neutropenia in infants.

Chronic benign neutropenia of infancy is a disease which develops a few months after birth and which is characterized by a severe selective neutropenia, accompanied by benign but persisting infections. The cause of the disease is still unknown. The sera from 5 such patients were tested for the presence of granulocyte antibodies as a possible cause of the disease. For the detection of these antibodies immunofluorescence, agglutination and granulocytotoxicity were used. All sera contained antibodies which reacted both with the neutrophils of one or both parents of the patient and a part of a panel of unrelated donors. From the reaction patterns against the panel we could identify the specificity of three sera. Two sera were directed to the neutrophil-specific antigen NA2, and the third one reacted with a hitherto not yet recognized neutrophil-specific alloantigen which we called NE1. In 4 patients we could confirm the autoimmune character of the disease by demonstrating the antibody on the patients' own granulocytes. These results suggest that autoimmunity may be the cause of many cases of benign infantile neutropenia.

Agglutination Tests↗
PubMed1981

Value of the determination of "true' free thyroxine in screening the newborn with possible congenital TBG-deficiency for congenital hypothyroidism.

The results of investigation on a family after a screening programme for congenital hypothyroidism are presented. The newborn child and her father appeared to have a congenital thyroxine binding globulin deficiency. Problem regarding standard thyroid hormone tests are discussed. It was observed that the free T4 index as well as a commercial free T4 determination introduced earlier can give misleading results. The first experience with another more promising free T4 determination is also presented.

Adult↗
PubMed1979

Neuroblastoma with a fulminant clinical course caused by tumor embolism.

The case of a 2 1/2-year-old girl with a well-nigh asymptomatic neuroblastoma of the left adrenal is described. In the final stage it gave rise to unusual clinical signs. The tumor had grown into the inferior vena cava via the left suprarenal and renal veins. Dissolution of the soft tumor mass in the vena cava caused fatal massive embolism of lungs and brain.

Adrenal Gland Neoplasms↗