Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Authors have tested serum levels of CEA, ferritin, Alpha-1-antitrypsin, parathyroid hormone (PTH) and calcitonin (CT) in 286 patients affected by lung, gastrointestinal, breast and other kinds of cancer and by non neoplastic diseases. 50 healthy subjects were tested as matched controls too. None of the tested patients was subjected to blood transfusion, therapy with iron, radio- or chemotherapy before the blood drawing. Cea, ferritin, PTH and CT were tested by radioimmunoassay; AAT by laser nephelometry. All the healthy subjects showed serum levels of the markers in the normal ranges. Also the percent of cases with contemporaneous pathological markers was examined. The obtained data have been statistically controlled with "chi square" test. The results show that CEA, ferritin, AAT and CT are higher in the tumor groups than in the others. On the contrary PTH seems to be not useful as tumor marker. The Authors conclude affirming that it is not possible to use any of the tested substances as a specific tumor marker but it is useful to test at the same time these markers in the patients suspected to be affected by cancer for an early diagnosis and therapy, as there are few false positive and false negative cases.
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PMID:[Association of serum tumor markers in solid neoplasms (CEA, ferritin, alpha 1-antitrypsin, parathormone and calcitonin)]. 698 16

Pyrimidine 5'-nucleotidase deficiency is a rare autosomal recessive disorder characterized by haemolytic anaemia, marked basophilic stippling and accumulation of pyrimidine nucleotides within the erythrocytes. The gene encoding for this enzyme (P5'N-1) has been cloned recently, and seven mutations have so far been identified in 11 unrelated families. We describe the haematological and molecular characteristics of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency (one from northern and five from southern Italy). The sequence of the complete P5'N-1 gene showed the presence of four different new mutations: a missense mutation AAT-AGT at codon 190 (Asn-Ser), one splicing mutation (IVS9-1 g-c) and two frameshift mutations, DelG576 and InsGG743. Although the molecular defect was homozygous in all patients but one, parents' consanguinity could be confirmed in only one case. InsGG743 was detected in two cases, and DelG576 was found in three patients originating from southern Italy, suggesting a possible geographical distribution of the genetic defect. Haematological data showed the presence of peripheral spherocytosis in all cases, although only one had a concomitant membrane defect. An increase in serum ferritin levels was observed in the splenectomized patients, suggesting that the iron status of these subjects should be monitored and that they should be investigated for potential additional risk factors for iron accumulation.
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PMID:Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency. 1293 Mar 99