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)

In recent years several cases of anemia (iron deficiency) have been reported in adults who participate in long-distance running although its etiology has not been entirely explained. We report the case of a 16-year-old girl who had participated in middle-distance running at a competitive level for about three years and who had been admitted to hospital because of a progressive weakness and a reduction in her sporting performance. Evaluation revealed that the patient had a balanced diet, normal menstrual cycles and slight abdominal pain. The objective examination were negative except for the presence of a pronounced pallor of the skin and the mucous membranes. The blood count revealed Hb 7.5 g%, Ht 26%, GV 63 mu 3, the reticulocyte count was 10%, serum iron 9 micrograms/dl, serum transferrin 450 micrograms/dl and serum ferritin 4 ng/ml. All tests for constitutional anemia proved negative. Stool Hemoccult tests proved negative (these tests were carried out some weeks after the patient had stopped running). Her symptoms resolved after the beginning of iron treatment and her blood test results returned to normal. This case has been reported to draw attention to the existence of this problem in adolescents who practice sport. The knowledge of the problem night lead to a preventive scanning of young athletes and the presence of clinical manifestations would reduce the need for invasive tests.
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PMID:[Severe sideropenic anemia in a young middle-distance runner]. 158 99

Iron is essential for human metabolism. Under normal circumstances its homeostasis is strictly kept by absorption and excretion through genitourinary, gastrointestinal tracts and skin losses. In several systemic disorders, dietary iron is insufficient to keep such a dynamic balance: development of iron deficiency may be due to increased requirements, decreased intestinal absorption, inadequate dietary uptake. Low birth weight newborns, children and adolescents are at increased risk for developing iron deficiency. Although clinical aspects may vary, hematochemical findings show a three-step gradual progression. In a first step iron deficiency is diagnosed by serum ferritin level which will be under 10-20/micrograms/ml showing a depletion of total body iron stores. In a second step progressing iron deficiency will be assessed by lowered serum iron and increased unsaturated serum transferrin, serum iron bound to transferrin and erythrocyte protoporphyrin IX. Scanty clinical signs are still available. In a third step while clinical findings show a complete features of iron deficiency anemia (weakness, fatigue, palpitations, etc.), laboratory findings show morphologic alterations in red cells (hypochromia and microcytemia), together with the aforementioned disorders in ferrokinetics. Iron deficiency anemia responds very effectively to treatment due a correct etiological diagnosis, crucial to a through therapy tending to first eliminating the causes of it. Prophylaxis against iron deficiency anemia is required in prematurely born and low birth weight infants because of doubled iron requirements. After the second month of life diet is supplemented with 2-4 mg/kg/die of ferrous iron orally along the first year of life.
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PMID:[Iron deficiency in children: which is the correct therapy?]. 189 80

Alcohol intake was measured in 54 men aged 32-45 who were moderate or heavy drinkers--first by questionnaire and then more thoroughly by diary. Blood was drawn for the measurement of suggested biological markers of alcohol intake after the completion of the questionnaire and at the end of two consecutive diary periods. Partial correlations, controlling for smoking, exercise and age, between daily alcohol intake and markers were low and increased only slightly when diary data were analyzed instead of questionnaire data. No improvement was observed when mean intake per drinking day or the highest daily intake during a diary period was substituted in the analyses for mean daily intake. Significant associations (p less than .05) were found for mean cell volume (MCV), serum high-density lipoprotein cholesterol (HDL) and alkaline phosphatase (AFOS), but not for serum gamma-glutamyl transferase (GGT), the HDL: cholesterol ratio or ferritin. Correlations between intake reported by diary and intake predicted by a multivariate model with MCV, HDL, AFOS and GGT as regressors were significant (p less than .05) and higher than any of the bivariate correlation coefficients but were low (r = .30-.31). Low correlations seem to result from the inherent weakness of the suggested markers rather than from inaccuracies in the measurement of alcohol intake.
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PMID:Correlations between biological markers and alcohol intake as measured by diary and questionnaire in men. 286 72

A 46-year-old man experienced weakness, lassitude, and vague, aching abdominal pain in the right upper quadrant. Physical examination was notable for hepatomegaly and slight hyperpigmentation of the hands. Elevated levels were revealed on liver function tests, and massive iron deposition was shown on liver biopsy. The patient was started on a therapeutic regimen of 400-ml phlebotomies. Hereditary hemochromatosis is an iron-storage disease in which total body iron stores can reach incredibly high levels, leading to damage of the liver, heart, pancreas, and pituitary gland. The most specific screening test is measurement of the serum concentration of ferritin, and a transferrin saturation determination is also helpful in diagnosis. Phlebotomy is still the treatment of choice, although new ways of administering chelating agents are being investigated.
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PMID:Hereditary hemochromatosis in a 46-year-old man. 374 25

Over the past seven years, 96 PLIF operations were performed with the autologous bone graft method. In 44 cases, unicortical bone grafts were obtained from the posterior iliac crest area. In the remaining 52 cases, bicortical bone grafts were obtained from the anterior iliac crest. The failure rate in the patients treated by interbody fusion with the unicortical posterior iliac crest graft was 11.8%. The failure rate in patients treated by interbody fusion with bicortical bone grafts was only 1.9%. The patients were ambulatory three to four days after the operation. In cases of spondylolysis and spondylolisthesis, interbody fusion should be coupled with some manner of posterior internal fixation. The extraction of two pieces of bicortical bone from the anterior iliac crest, measuring 1.2 cm or 1.3 cm by 2.5 cm, may cause weakness of the pelvic bone. Therefore, the bicortical grafting in PLIF should be limited to severely disabled patients with complete spinal canal stenosis or very large myelographic defects.
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PMID:Experience in posterior lumbar interbody fusion: unicortical versus bicortical autologous grafts. 388 91

Unexplained proximal muscle weakness developed in 10 patients on chronic maintenance haemodialysis. Proximal muscle biopsy in 7 patients disclosed iron deposition in muscle fibres and/or macrophages. All 10 patients had severe iron overload (serum-ferritin level > 1000 ng/ml). Since HLA-A3, B7, and B14 antigens are associated with idiopathic haemochromatosis and, therefore, are linked with alleles regulating iron metabolism, HLA type was reviewed in 61 haemodialysis patients, including the 10 myopathic patients. Serum-ferritin levels showed a significant correlation (p<0.001) with the presence of the HLA-antigens. Close relatives of these patients with HLA-antigen-associated iron-overload myopathy did not have raised serum-ferritin levels. Patients on maintenance haemodialysis who have inherited the "haemochromatosis alleles" thus have an increased risk of iron overload and muscle iron deposition.
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PMID:iron-overload-associated myopathy in patients on maintenance haemodialysis: a histocompatibility-linked disorder. 610 46

Gastric transposition (GT) has become a reliable alternative operation for oesophageal replacement in children. The aims of this study were to assess the long-term results of the operation and to study the function of the intrathoracic stomach. Current symptoms were assessed using a questionnaire and linear analogue scales. Lung function was measured using spirometry and plethysmography, and the results were corrected for height and expressed as a percentage of the predicted values for normal children. Gastric emptying was assessed using a dual isotope radiolabelled test meal (incorporating solid and liquid phases). Full anthropometric and haematologic data also were collected. The results are expressed as medians and interquartile ranges. Seventeen children were examined at least 5 years after GT; the median age was 9 years. Two children frequently had symptoms during swallowing. Four children had significant diarrhoeal episodes, and two had significant postprandial weakness or dizziness. Unexplained breathlessness was noted by four children. All but one child had lung function values that were lower than the mean predicted value for height. For example, the total lung capacity was 68%, and forced vital capacity (FVC) was 64%. However, the ratio of forced expiratory volume in 1 second (FEV1) to FVC was normal. The gastric emptying study showed that the intrathoracic stomach in all subjects served as a conduit (rather than a reservoir) for both liquids and solids. Rapid emptying (> 50%) in both phases occurred within 5 minutes of ingestion in 82% of the group. Thirteen children were between the 3rd and 97th percentiles for height, and 11 in this range for weight. Five children were anaemic (< 11.5 g/dL). In 11 of the tested samples, the serum ferritin was low, indicating depleted iron stores. GT is compatible with an entirely normal life and has allowed satisfactory growth and nutrition for the majority of subjects in this study group.
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PMID:Long-term effects of gastric transposition in children: a physiological study. 880 20

Highly reactive oxyradicals can be generated in vitro by iron-catalyzed aerobic oxidation of synthetic and naturally occurring substances capable of enolization in aqueous medium. Of biological interest are alpha-hydroxy- and alpha-aminocarbonyls such as carbohydrates, 5-aminolevulinic acid, and aminoacetone which tautomerize to the corresponding enediols and enolamines and yield oxyradicals initiated by electron transfer to dioxygen. Free radicals have been implicated in several normal and pathological processes. We briefly review our hypothesis of an in vivo prooxidant role of 5-aminolevulinic acid (ALA), the heme precursor accumulated in several porphyric disorders (e.g., lead poisoning, acute intermittent porphyria (AIP), tyrosinosis). Accordingly, i) ALA undergoes transition metal-catalyzed oxidation to give O-2, H2O2 and HO.; ii) ALA induces iron release from ferritin, lipid peroxidation of cardiolipin-rich vesicles, single strand breaks in plasmid DNA, and guanosine oxidation in calf thymus DNA; iii) ALA causes Ca(2+)-mediated rat liver mitochondria permeabilization; iv) rats chronically treated with ALA exhibit increased glycolytic metabolism; v) brain extracts of ALA-treated rats reveal increased levels of thiobarbituric acid reactive substances, direct chemiluminescence intensity, carbonyl proteins, ferritin, and "free iron" and gamma-aminobutyric acid-receptor dissociation constant, and vi) patients with AIP and lead-exposed workers present augmented erythrocytic levels of the antioxidant enzymes superoxide dismutase and glutathione peroxidase. These data indicate the involvement of ALA-generated reactive species in the clinical manifestations (neuropathy, mental changes, muscle weakness, hepatoma) shared by the aforementioned inherited and acquired porphyric diseases.
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PMID:Oxidative stress in acute intermittent porphyria and lead poisoning may be triggered by 5-aminolevulinic acid. 907 Mar 73

The complications of iron overload in hemochromatosis can be avoided by early diagnosis and appropriate management. Therapeutic phlebotomy is used to remove excess iron and maintain low normal body iron stores, and it should be initiated in men with serum ferritin levels of 300 microg/L or more and in women with serum ferritin levels of 200 microg/L or more, regardless of the presence or absence of symptoms. Typically, therapeutic phlebotomy consists of 1) removal of 1 unit (450 to 500 mL) of blood weekly until the serum ferritin level is 10 to 20 microg/L and 2) maintenance of the serum ferritin level at 50 microg/L or less thereafter by periodic removal of blood. Hyperferritinemia attributable to iron overload is resolved by therapeutic phlebotomy. When applied before iron overload becomes severe, this treatment also prevents complications of iron overload, including hepatic cirrhosis, primary liver cancer, diabetes mellitus, hypogonadotrophic hypogonadism, joint disease, and cardiomyopathy. In patients with established iron overload disease, weakness, fatigue, increased hepatic enzyme concentrations, right upper quadrant pain, and hyperpigmentation are often substantially alleviated by therapeutic phlebotomy. Patients with liver disease, joint disease, diabetes mellitus and other endocrinopathic abnormalities, and cardiac abnormalities often require additional, specific management. Dietary management of hemochromatosis includes avoidance of medicinal iron, mineral supplements, excess vitamin C, and uncooked seafoods. This can reduce the rate of iron reaccumulation; reduce retention of nonferrous metals; and help reduce complications of liver disease, diabetes mellitus, and Vibrio infection. This comprehensive approach to the management of hemochromatosis can decrease the frequency and severity of iron overload, improve quality of life, and increase longevity.
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PMID:Management of hemochromatosis. Hemochromatosis Management Working Group. 986 45

An unusual cause of upper gastrointestinal bleeding is described in a previously healthy 45-year-old man who was admitted to hospital with weakness and fatigue, and had experienced an episode of melena two days before admission. His medical and surgical history was unremarkable. Upon admission to hospital, he showed evidence of iron-deficiency anemia, with a hemoglobin concentration of 61 g/L (normal range 135 to 175 g/L), a mean corpuscular volume of 73 fL (normal range 85.0 to 95.0 fL) and a ferritin concentration of 1.0 microg/L (normal range in males 15 to 400 microg/L). Upper gastrointestinal endoscopy revealed a 3.5 cm ulcerated submucosal mass in the third portion of the duodenum, for which mucosal biopsies were nondiagnostic. A subsequent endoscopic ultrasound revealed a 2.7 x 4.0 cm hyperechoic, cystic, submucosal tumour in the third portion of the duodenum. Endoscopic ultrasound-guided fine needle aspiration revealed no malignant cells. The patient eventually underwent a resection of the third portion of his duodenum. Surgical pathology revealed that this tumour was a Brunner's gland hamartoma, 4.5 cm in its greatest dimension.
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PMID:Brunner's gland hamartoma: a rare cause of gastrointestinal bleeding -- case report and review of the literature. 1204 80


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