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Biomedical subjects

C Vermeulen-Meiners

Publications and source records attributed to C Vermeulen-Meiners.

7 recordsLinked to original sources

A dominant-hereditary variation of the Pena-Shokeir syndrome; a case report.

Four children with the Pena-Shokeir syndrome are described. Apart from the classical manifestations of the syndrome: camptodactyly, ankyloses, facial anomalies, pulmonary hypoplasia, all four children had an extremely rigid skin. Possibly this rigidness of unknown origin led in these cases to fetal akinesia, which seems to be the explanation of the clinical manifestations of the syndrome. All children were born to one man, three in his first marriage, one in his second. Therefore this case report almost certainly presents a dominant-hereditary variation of the syndrome.

Abnormalities, Multiple

Further delineation of the Yunis-Varon syndrome.

A boy with intrauterine growth retardation, microcephaly, dysostosis of the skull, hypoplastic facial bones, labiogingival retraction, agenesis of the clavicles, distal aphalangia, and severely hypoplastic thumbs and halluces is described. The features are consistent with the Yunis-Varon syndrome. Review of published reports shows this to be a generalised disorder with variable manifestations in the skeletal, ectodermal, and cardiovascular systems. The consanguinity of the parents of the present case is in agreement with autosomal recessive inheritance.

Abnormalities, Multiple

Fetal treatment for thyrotoxicosis in non-thyrotoxic pregnant women.

Euthyroid or even hypothyroid pregnant women without antithyroid medication but with a history of treatment for thyrotoxicosis, almost always a subtotal strumectomy, may still produce thyroid-stimulating immunoglobulins. This can induce fetal and neonatal thyrotoxicosis. Without treatment this results in a high fetal and neonatal mortality and morbidity. Fetal treatment by administering antithyroid drugs during pregnancy improves this prognosis remarkably. A case is described, the literature is reviewed and guidelines for diagnosis and treatment are presented.

Adult

The endogenous concentration and subcellular distribution of androgens in normal human premenopausal endometrium, myometrium and vagina.

The endogenous concentrations of testosterone (Testo), androstenedione (Adion), 5-androstene-3 beta, 17 beta-diol (Adiol), dehydroepiandrosterone (DHEA) and DHEA-sulfate (DHEAS) have been measured in endometrium, myometrium and vagina from 23 premenopausal women at different stages of the cycle. The tissue to plasma gradient was positive for all androgens except DHEAS; a significant correlation existed between plasma and tissue levels of Adiol and DHEAS. In all tissues significant correlations were calculated between Adiol and DHEA, Adion and Testo, and Adiol and DHEAS. Except for Testo, androgen concentrations were different in the tissues with a significant correlation between the tissues, each tissue seeming to be able to create its own specific intratissue androgen pattern. During the cycle Testo was highest in myometrium and vagina and Adion in myometrium and endometrium during the secretory phase. Except for DHEA, androgens were preferentially localized in the cytosol fraction of the cells. From this localization and the known inhibitory effects of androgens on the activity of estrogen metabolizing enzymes, it is postulated that androgens play a role in enzymatic rather than receptor-mediated processes in uterine cells.

Adult

Neonatal thyrotoxicosis treated with exchange transfusion and Lugol's iodine.

An infant with neonatal thyrotoxicosis was born to a mother who had become euthyroid after subtotal thyroidectomy for Graves' disease. Exchange transfusion resulted in a 50% decrease of serum thyroxine levels and thyroid stimulating immunoglobulins. After 10 days mild thyrotoxic signs reappeared with high serum thyroxine levels, which were treated successfully with Lugol's iodine for 4 weeks. TSI was undetectable at 7 weeks of age. TSI was present in breast milk.

Adult