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)

A cross-sectional epidemiological study was carried out among 141 male subjects exposed to inorganic manganese (Mn) in a Mn oxide and salt producing plant (mean age 34.3 years; duration of exposure, mean 7.1 years, range 1-19 years). The results were compared with those of a matched control group of 104 subjects. The intensity of Mn exposure was moderate as reflected by the airborne Mn levels and the concentrations of Mn in blood (Mn-B) and in urine (Mn-U). A significantly higher prevalence of cough in cold season, dyspnea during exercise, and recent episodes of acute bronchitis was found in the Mn group. Lung ventilatory parameters (forced vital capacity, FVC; forced expiratory volume in one second, FEV1; peak expiratory flow rate, PEFR) were only mildly altered in the Mn group (smokers) and the intensity and the prevalence of these changes were not related to Mn-B, Mn-U, or duration of exposure. There was no synergistic effect between Mn exposure and smoking on the spirometric parameters. Except for a few nonspecific symptoms (fatigue, tinnitus, trembling of fingers, increased irritability), the prevalence of the other subjective complaints did not differ significantly between the control and Mn groups. Psychomotor tests were more sensitive than the standardized neurological examination for the early detection of adverse effects of Mn on the central nervous system (CNS). Significant alterations were found in simple reaction time (visual), audioverbal short-term memory capacity, and hand tremor (eye-hand coordination, hand steadiness). A slight increase in the number of circulating neutrophils and in the values of several serum parameters (ie, calcium, ceruloplasmin, copper, and ferritin) was also found in the Mn group. There were no clear-cut dose-response relationships between Mn-U or duration of Mn exposure and the prevalence of abnormal CNS or biological findings. The prevalences of disturbances in hand tremor and that of increased levels of serum calcium were related to Mn-B. The response to the eye-hand coordination test suggests the existence of a Mn-B threshold at about 1 microgram Mn/100 ml of whole blood. This study demonstrates that a time-weighted average exposure to airborne Mn dust (total dust) of about 1 mg/m3 for less than 20 years may present preclinical signs of intoxication.
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PMID:Epidemiological survey among workers exposed to manganese: effects on lung, central nervous system, and some biological indices. 357 89

Thalassaemia major determines an impaired effort tolerance because of a condition of severe anaemia, progressive left ventricular dysfunction, pulmonary circulation compromise. The aim of our study is to evaluate haemodynamic response to exercise in thalassaemic patients without clinical features of heart failure. We have selected 13 patients affected by thalassaemia major (Thal+; 10-18 years). Each patient was transfused when haemoglobin values were < 9-9.5 g/dl and was treated with desferrioxamine (40 mg/kg sc) when serum ferritin values were > 2,000 ng/ml. Thal+ patients were compared with normal subjects (Thal- 10-16 years). No patient assumed hypotensive therapy, no had familiar history of hypertension. Both groups have undergone an ergometric stress test at the cycloergometer, with increase of 25 W every 2 min, up to the reaching of the maximum age-related heart rate, or up to muscle exhaustion or unbearable dyspnea, followed by a 10 min recovery phase. The following parameters were taken in consideration: systolic (SBP) and diastolic (DBP) blood pressure, heart rate (HR), the product of the heart rate by the systolic blood pressure (DP), at rest, at the maximum common work (MCW), at maximum stress and in the recovery phases. At rest, only DP showed significant differences between the two groups: in Thal+ patients higher than in Thal- (p = 0.045). At the MCW, Thal+ patients had SBP (p = 0.019), DBP (p = 0.01), HR (p = 0.035) and DP (p = 0.003) higher than Thal- patients. At maximum stress only DBP showed significant differences in Thal+ patients (p = 0.019), although Thal+ patients achieved lower levels of workload (p = 0.0001).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Cardiovascular adaptation to the stress test in subjects with Cooley's disease]. 780 70

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

Hereditary hemochromatosis is an autosomal recessive disorder, the gene for which occurs in approximately 10% of Americans, most of whom are unaffected heterozygotes. Approximately 5/1000 white Americans are homozygous and at risk of developing severe and potentially lethal hemochromatosis. The disorder affects numerous organ systems, but the most common symptoms are fatigue, palpitations, joint pains, and impotence; the most common signs are those that relate to hypothalamic, cardiac, hepatic or pancreatic dysfunction, including poor cold tolerance, impotence in males, amenorrhea in females, cardiac arrhythmias, dyspnea, edema, hepatosplenomegaly, spider telangiectases, ascites, deformity, swelling or limitation of motion of joints, weight loss, hyperpigmentation. Characteristic abnormalities of laboratory tests include elevated serum iron concentration, high transferrin saturation, elevated serum ferritin concentration, elevated serum transaminases, hyperglycemia and low values for thyroid-stimulating hormone (TSH) and gonadotropins. Death may be the result of cardiac arrhythmia, congestive heart failure, liver failure or liver cancer. Since many of these complications cannot be reversed once they have developed, early diagnosis and treatment are essential. In view of the high prevalence in the American population (prevalence varies with ethnic background), the low cost of diagnosis and treatment, the efficacy of treatment if begun early, and, on the other hand, high costs and low success rate of late diagnosis and treatment, systematic screening for hemochromatosis is warranted for all persons over the age of 20 years. The initial screening should be by measurement of serum iron concentration and transferrin saturation. The practice guideline provides a diagnostic algorithm for cases in which the serum transferrin saturation is 60% or greater. It also provides guidelines for clinical management.
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PMID:Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. 886 84

In infection-associated hemophagocytic syndrome (HPS) the causative pathogen is often undetected, except in cases of herpes virus infections. We describe a 12-year-old girl with life-threatening pneumonia with HPS caused by an adenovirus. She was admitted with complaints of persistent fever and systemic petechiae/purpura. The day after admission the patient developed sudden dyspnea with massive infiltration of the bilateral lower lung field. She exhibited coagulopathy, hepatic dysfunction, and remarkable elevations in serum levels of cytokine, ferritin, and urinary beta2-microglobulin. A diagnosis of HPS was made, and the patient was treated with dexamethasone and cyclosporin A on the second hospital day. Her fever went down quickly, and the abnormal laboratory and chest radiographic findings returned to normal over a period of 2 weeks. Antibody analysis was not successful in identifying the pathogen responsible. However, a polymerase chain reaction (PCR) assay of lung tissue biopsied on the fifth hospital day was positive for an adenovirus (subgroup B), and quantitative adenoviral DNA analysis by real-time PCR using primers covering serotypes 3, 7,11, and 35 (all subgroup B) confirmed this initial finding (93 copies/microg DNA in the biopsied lung and no detectable adenovirus DNA in the lung tissues of control subjects). This approach may provide important clues for improving outcomes and clarifying the exact etiology in cases of often fatal, infection-associated HPS.
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PMID:Hemophagocytic syndrome associated with severe adenoviral pneumonia: usefulness of real-time polymerase chain reaction for diagnosis. 1273 75

EPIDEMIOLOGY ADN PHYSIOPATHOLOGY: Hereditary haemochromatosis is the most common genetic disease in France. Its frequency is on average 1 out of 300 French individuals. It is due to excessive dietary iron absorption, leading to accumulation of iron in the body. Mutations of the HFE1 gene are responsible for the majority of the case of haemochromatosis. FROM A CLINICAL POINT OF VIEW: The first clinical manifestations (weakness, sexual dysfunction, arthralgia, cardiac symptoms, dyspnoea on effort) can occur after the age of 30 years in men and 35 years in women (protected for longer by menstruation, pregnancy and delivery). In the absence of diagnosis, severe complications can develop during the 5th decade: nervous breakdown, arthropathy, heart failure, diabetes mellitus, cirrhosis with risk of progression towards carcinoma, responsible for handicaps and premature death. DIAGNOSTIC ELEMENTS: The diagnosis is evoked in the case of an increase in transferrine saturation (>45%), associated or not with excessive ferritin plasma levels. It is confirmed by the genetic test, showing homozygotes for the C282Y mutation or compound heterozygotes for the C282Y and H63D mutations on the HFE1 gene. RMI quantifies hepatic iron loading and generally avoids the need for a liver biopsy. The differential diagnosis must exclude secondary iron overload due to chronic transfusions in congenital or acquired blood diseases, a polymetabolic syndrome, chronic viral or alcoholic hepatic diseases and porphyria cutanea tarda. EFFICIENT TREATMENT: Today, haemochromatosis is still treated by phlebotomy. This consists in withdrawing 400 to 500ml of blood every week at the initial depletion stage and subsequently a maintenance therapy in order to maintain ferritin levels below 50 ng/ml. Paradoxically and through ignorance, hereditary haemochromatosis remains a serious disease, although its diagnosis is easy and the treatment simple and effective.
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PMID:[Hereditary haemochromatosis]. 1579 37

Heart failure is a common, progressive, complex clinical syndrome with high morbidity and mortality. Coronary artery disease is its most common cause. The evaluation of symptomatic patients with suspected heart failure is directed at confirming the diagnosis, determining the cause, identifying concomitant illnesses, establishing the severity of heart failure, and guiding therapy. The initial evaluation should include a focused history and physical examination, a chest radiograph, and an electrocardiogram. The presence of heart failure can be confirmed by an echocardiogram. Heart failure is highly unlikely in the absence of dyspnea and an abnormal chest radiograph or electrocardiogram. Radionuclide angiography or contrast cineangiography may be necessary when clinical suspicion for heart failure is high and the echocardiogram is equivocal. Patients with confirmed heart failure should undergo additional testing, including a more detailed history and physical examination; a complete blood count; blood glucose measurement; liver function tests; serum electrolyte, blood urea nitrogen, and creatinine measurements; lipid panel; urinalysis; and thyroid-stimulating hormone level. A serum ferritin level, human immunodeficiency virus test, antinuclear antibody assays, rheumatoid factor test, or metanephrine measurements may be required in selected patients. Patients with coronary artery disease, hypertension, diabetes mellitus, exposure to cardiotoxic drugs, alcohol abuse, or a family history of cardiomyopathy are at high risk for heart failure and may benefit from routine screening.
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PMID:Diagnosis of heart failure in adults. 1560 63

A 24-year-old woman was referred to our hospital with fever and cervical lymphadenopathy. On admission, her serum concentration of soluble IL-2 receptor had increased to 1,740 IU/ml, LDH was 2,889 IU/l, and ferritin was 2,389 ng/ml. Dyspnea became evident (PaO2 60 Torr) with a further increase of serum ferritin to 96,552 mg/ml on day 11. Chest CT findings showed the thickening of the interlobular septa, bilateral pleural effusion, and swelling of mediastinal lymph nodes, symptoms which were very similar to those associated with lymphangitis carcinomatosis. She received steroid pulse therapy (methylprednisolone, 1,000 mg/day for three days). This resulted in a rapid improvement of her dyspnea and disappearance of the lymphatic blockade-mediated pulmonary findings in two days. A cervical lymph node biopsy was performed on day 12, and revealed that she had subacute lymphadenitis (Kikuchi disease). This case suggests that acute respiratory failure should be considered in cases of Kikuchi disease when associated with a lymphatic blockade.
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PMID:[Subacute necrotizing lymphadenitis showing lymphatic blockade-mediated acute respiratory failure]. 1678 97

The iron deficiency is the first cause of anaemia. In healthy young adult, anemia is well tolerated because of its progressive installation. The most common symptoms of anemia are pallor, fatigue and dyspnea. In biological exams, anemia is classically associated with microcytosis and hypochromia. The origins of microcytic anemia are iron deficiency, inflammatory aetiologies, thalassemia and sideroblastic anaemia. The iron-deficiency diagnosis includes two explorations: biological and clinical. The biological exploration is based on interpretation of serum biologics tests as blood iron, ferritin, transferrin with saturation, total iron-binding capacity and its soluble receptors. This interpretation is simple if it is not associated with clinical disorders influencing the internal iron cycle. The clinical exploration must always be followed by a careful assessment of the underlying cause as blood loss. The most common causes in women of reproductive age are gynaecologic. In men and menopausal women, the gastrointestinal tract bleeding is source of anemia. Therapeutic management of anemia is oral iron therapy. Etiological diagnostic of microcytosis is essential before iron therapy. If not, the treatment could be inefficient or it could mask or delay the etiological diagnostic.
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PMID:[Iron deficiency anaemia: clinical presentation, biological diagnosis and management]. 1749 37

A 4-year-old girl was evaluated for hair loss of a few weeks' duration. History of the present illness, medical history, and review of systems were obtained from the parents, who described progressive diffuse hair loss with hair dryness and brittleness, with no change in the child's eating habits or any other unusual symptoms. No fever, weight loss, diarrhea, vomiting, abdominal pain, chronic cough, dyspnea, change in appetite, change in bowel habit, or urinary symptoms were noted. On further questioning, her nutritional history revealed that she always favored cow's milk in her diet. The patient has been healthy with no significant medical history, surgical history, psychiatric history, or history of hospitalization. She was taking no medications. Her mother's pregnancy and the child's birth history were uneventful. The child was up-to-date on her vaccinations. Her physical examination showed a healthy-appearing child who was at 50% on the height chart and 70% on the weight growth chart. She was afebrile with a respiratory rate of 24 breaths per minute, pulse rate of 110 beats per minute, and pulse oximetry of 99% on room air. Skin examination revealed interstitial diffuse patchy alopecia with very dry hair and nonscarred, normal-appearing scalp. The hair pull test was normal, with 4 hairs extracted. Results of examination of her eyes (including visual acuity) and lungs were normal, and no abnormalities were found on heart, abdominal, musculoskeletal, and neurologic examinations. Laboratory workup showed normal electrolytes, blood urea nitrogen, creatinine, and blood sugar levels. Her complete blood cell count with differential was normal, ferritin concentration level was 110 ng/mL (reference, 40-200 ng/mL), iron level was 75 microg/dL (reference, 35-175 microg/dL), and total iron-binding capacity was 310 microg/dL (reference, 245-400 microg/dL). Levels of liver enzymes, total bilirubin, serum protein, and albumin were normal, as were the results of urinalysis. Thyroid function test results were normal and levels of vitamins A and D were also normal. Low levels of serum zinc were measured repeatedly at 48 and 61 microg/dL (reference, 66-144 microg/dL) at 2 different laboratories. She was started on zinc supplement (50 mg daily) for 6 months and her diet was modified. The hair loss stopped in 3 weeks. Follow-up in 4 months showed no evidence of alopecia, with normal-looking hair.
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PMID:Diffuse alopecia in a child due to dietary zinc deficiency. 1761 80


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