Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042875 (vitamin E deficiency)
 916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Type I dyserythropoietic anaemia was diagnosed in an infant, who presented with respiratory distress and hepatosplenomegaly soon after birth. Anaemia became manifest during the neonatal period. The case clearly proves the congenital nature of the disease. Abnormalities of the myelopoietic series indicate that it might be a stem cell disease and the presence of skeletal anomalies of the hands suggests a genetic relationship to some cases of Fanconi and Diamond anaemia. No serum lipid or vitamin E deficiency was present as in type II congenital dyserythropoietic anaemia. Serial serum ferritin determinations indicated that iron stores are increased early in type I congenital dyserythropoietic anaemia despite no transfusion load.
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PMID:Type I congenital dyserythropoietic anaemia with myelopoietic abnormalities and hand malformations. 69 20

Subjects with a variety of enteropathies, hemolytic anemias, acute respiratory distress syndrome, hepatitis, Gaucher's disease as well as those on TPN and hemodialysis, often have low ("deficient") blood levels of vitamin E. A deficiency of vitamin E can be manifested by accelerated red blood cell destruction and neuromuscular deficit. Supplementation of these patients may be advisable. Neurological dysfunction has been observed in adults with prolonged vitamin E deficiency resulting from lipid malabsorption. Long-term treatment with high doses of vitamin E results in improvement. Administration of 800 IU/day of vitamin E to subjects with G6PD deficiency, sickle-cell anemia and beta-thalassemia has resulted in improvement of hematological parameters. Supplementation with 300 IU/day for 3-6 months has resulted in improved walking distances and improved blood flow in patients with intermittent claudication. In a limited number of controlled studies, 300-600 IU/day resulted in improvement in premenstrual syndrome, tardive dyskinesia and also arthritis. Epidemiological studies suggest that high levels of serum vitamin E are associated with lower risk of certain cancers, cardiovascular disease and infections. In some cases the high levels are difficult to obtain by diet alone. High levels of vitamin E are contraindicated in subjects who are receiving vitamin K antagonists as anticoagulant therapy. Except for this interaction with vitamin K, there are no specific side effects associated with high doses of vitamin E. Thus, there are various reasons for supplementations with vitamin E and, with the exception noted, the risk of such supplementation is very low.
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PMID:Use and safety of elevated dosages of vitamin E in adults. 250 7

Some premature and mature newborns who require intermittent positive airway pressure (IPPV) and high oxygen concentrations for respiratory distress syndrome develop characteristic damage of bronchi and bronchioles termed broncho-pulmonary dysplasia (BPD). According to the radiographic findings the changes are categorized into four progressive stages. Stage 1 describes a radiographic feature with a pattern of fine, faint granularity as it is characteristic for the hyaline-membrane-syndrome. Stages 2 to 4 represent diffuse interstitial emphysema, a bubbly appearance of the lung, atelectasis and a progressive fibrosis. Electronmicroscopic investigations of bronchial imprints could demonstrate a rarefication of the cilia and a ciliary damage which took the form of compound cilia. In addition, a marked increase of goblet cells in the bronchial mucosa as well as a metaplasia of the epithelial cells was present. These findings may be a prerequisite for chronic infections, and perpetuate a cycle which may result in chronic obstructive airway disease. The significance of bronchial and bronchiolar injury in children with BPD is said to be due to IPPV, high inspiratory oxygen concentrations, high fluid intake, vitamin E deficiency or an increased intrapulmonary pressure secondary to a patent ductus arteriosus. When pulmonary mechanics were measured in a baby-body-plethysmograph a high pulmonary resistance and a low dynamic compliance occurred at the first investigation after IPPV or oxygen administration. On re-examination there was a strong tendency to normalisation of x-ray findings and pulmonary mechanics, depending upon the time which elapsed between ventilation and re-examination. Current therapy has to be symptomatic and may include secretolytics, glucocorticoids and bronchodilators. The preventive interventions have to take into consideration ventilation techniques, restrictions in O2 and fluid intake.
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PMID:[Pulmonary dysplasia in infancy. Pathogenesis, pneumologic course studies and therapy possibilities]. 647 97