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Biomedical subjects

N O Illum

Publications and source records attributed to N O Illum.

6 recordsLinked to original sources
PubMed1995

[Diagnosis of pyruvate kinase deficiency].

Two children with nonspherocytic anaemia and pyruvate kinase deficiency had their diagnosis delayed due to normal initial estimations of enzyme activity. Repeated analyses involving other glycolytic enzymes documented an increased glucose-6-phosphate dehydrogenase activity as a function of high reticulocyte counts. The pyruvate kinase activity showed subnormal values. By simple comparison of both enzyme activities a true pyruvate kinase activity of below 50% was estimated thus rendering the diagnosis of pyruvate kinase deficiency highly probable. Analyses of more than one glycolytic enzyme should be performed in young children with otherwise unexplained haemolysis and associated high reticulocyte counts.

Anemia, Hemolytic, Congenital Nonspherocytic↗
PubMed1993

[Physiopathologic mechanisms behind eye symptoms in primary tumors of the pineal body].

Primary tumors of the pineal body can produce dyscoordinative movements of the eye, pupillary dilatation, paralysis of adduction during convergence and nystagmus. Obstruction of the aqueduct can cause hydrocephalus, increased intracranial pressure and papilledema. Diabetes insipidus may be a presenting symptom. Pinealocytes and the photoreceptors of the eye contain several autoantigens. In man, the best known is the S-antigen. This antigen can be detected in the cerebrospinal fluid of patients with primary tumors of the pineal body. The S-antigen, and possibly other related autoantigens, can elicit an autoimmune mediated reaction causing inflammatory eye symptoms. This recently described paraneoplastic neurologic syndrome shares properties in common with other known cancer-associated ophthalmologic syndromes characterised by rapid development of eye symptoms, rapid loss of sight and by eye manifestations prior to evident appearance of symptoms related to primary tumor growth. A primary tumor of the pineal body should be considered in patients where a monosymptomatic uveoretinitis presents without associated provoking factors. Furthermore, analyses of S-antigen in the spinal fluid can be useful in the clinical diagnosis of the same primary tumors.

Autoimmunity↗
PubMed1992

[Treatment of hemangioma in children with recombinant interferon].

Pulmonary haemangiomatosis and large haemangiomas endangering vital structures and with a potential association of consumptive coagulopathy are rare but severe diseases in infancy and childhood. Therapy with glucocorticoids, cytostatics and surgical intervention has not proved satisfactory. From experience with Kaposi's sarcoma, about 20 children with severe forms of haemangiomatous disease have now been treated with alpha-interferon with promising results. Mechanisms of action are unknown, but these could include a cytostatic effect, inhibition of the abnormal proliferation of endothelial cells, fibroblasts and smooth muscle cells. Furthermore, alpha-interferon could inhibit the paracrine and autocrine effects of locally produced growth factors. Also, alpha-interferon could promote the production of prostacyclin, which inhibits platelet aggregation, leading to reduced damage and consumption of platelets. Long term treatment is mandatory. Initial daily doses of 2 to 5 million U/m2 are administered subcutaneously. Side effects in this dosage interval are uncommon in childhood. Future studies are needed to establish exact guidelines for the use of alpha-interferon in childhood, but the clinical experience hitherto obtained points to the fact that treatment is effective in severe forms of haemangiomas and pulmonary haemangiomatosis.

Child↗
PubMed1992

[Neurocysticercosis. Severe neurocysticercosis in a child].

A case of neurocysticercosis with progressive severe neurological symptoms is described. The patient was a Turkish girl aged 4 1/2 years who had experienced intermittent neurological symptoms for two years. Rapid diagnosis and treatment with praziquantel and corticosteroid resulted in complete restitution.

Brain↗