Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 54 year-old previously healthy woman was admitted with staphylococcus aureus septicaemia. The patient had been treated with oral iron supplementation for two years due to fatigue. In the evaluation of postinfectious anaemia, serum transferrin saturation and serum ferritin were found persistently elevated with values of 74% and 950 micrograms/1, respectively. Hereditary haemochromatosis was suspected even though there was no history of liver disease or diabetes mellitus in the family. A bone marrow biopsy showed a normal content of haemosiderin iron. The liver biopsy revealed haemosiderosis, mainly located to the periportal hepatocytes, and fibrosis in the portal tracts. The HLA-type was A3, B7, B37. Over a period of ten months, a total of 3.9 g of iron was removed by venesection while S-ferritin declined to 31 micrograms/l. A sister to the proband had an identical HLA type, but normal iron status markers, either indicating heterozygosity or homozygosity with lack of penetrance. In preclinical hereditary haemochromatosis, early diagnosis and treatment is essential in order to prevent organ damage and to improve prognosis. Prophylactic screening is recommended. The identification of one homozygous subject in a Danish year-cohort of 60.000 persons costs approximately 40.000 Danish kroner (7.000 US+).
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PMID:[Preclinical hereditary hemochromatosis--is there an indication for preventive screening?]. 765 9

Food allergy is clinically classified into two types, immediate and nonimmediate. Radioallergosorbent test (RAST) is a sensitive procedure for the diagnosis of IgE-mediated hypersensitivity but not for other types of hypersensitivity. There is not yet a sensitive blood examination for detection of allergens in nonimmediate types of food allergy. Of the total number of subjects in our study, twenty-two children had nonimmediate types of food allergy (hen's egg, cow's milk, soybean, or buckwheat flour), atopic dermatitis, allergic tension fatigue syndrome or pulmonary hemosiderosis. For these children, manifestations of the allergy did not appear earlier than 2 hours after ingestion of the offending food. Eighteen children in the study developed acute urticaria, angioedema, or bronchial asthma appearing within 2 hours of the challenge. Fifteen nonatopic healthy children were selected as controls. Proliferative responses of peripheral blood mononuclear cells (PBMCs) to food antigens were measured in nonimmediate types of food allergy. The proliferative responses of PBMCs to each offending food antigen in patients with nonimmediate types of food allergy were significantly higher than those of healthy controls and patients with immediate types of food allergy, respectively. Moreover, in each case with nonimmediate type, the proliferative responses to food antigens other than the offending food were not detected. When PBMCs were twice stimulated with the offending food antigen, the same results were obtained. These results indicate that the proliferative response of PBMCs to food antigens is specific to each offending food antigen in nonimmediate types of food allergy. Taken together, proliferative responses of PBMCs to each food antigen are useful for detection of allergens in nonimmediate types of food allergy.
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PMID:Proliferative responses of lymphocytes to food antigens are useful for detection of allergens in nonimmediate types of food allergy. 916 39

Congenital unilateral absence of a pulmonary artery is a rare anomaly most frequently accompanied by other cardiovascular anomalies. We report a 10-year-old girl presenting with fatigue and recurrent hemoptysis who was initially misdiagnosed with idiopathic pulmonary hemosiderosis. Her symptoms did not resolve despite treatment so she was referred to our center for further evaluation. We carried out an angiography which revealed the absence of the right pulmonary artery and multiple collaterals originating from the right subclavian and right internal mammary arteries supplying the right lung. During the follow-up the patient developed a severe episode of pulmonary infection and pulmonary hypertension which responded well to medical treatment. Physicians should be aware of the congenital absence of the right pulmonary artery especially in patients presenting with recurrent respiratory symptoms. Although this condition is generally considered to have a good prognosis, close observation is mandatory in order to prevent further complications and comorbidities.
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PMID:A case of congenital agenesis of the right pulmonary artery presenting with hemoptysis and mimicking pulmonary hemosiderosis. 1847 62

Moulds are responsible for diseases in humans through the three pathogenetic mechanisms of infection, allergy, and toxicity. Fungal infection is especially a risk factor for immunodeficient patients, but it occurs in immunocompetent patients as well. Fungal allergy is manifested as bronchial asthma, hypersensitivity pneumonitis, allergic bronchopulmonary aspergillosis, or allergic fungal sinusitis. Mycotoxicosis is almost exclusively the result of ingestion of mould-contaminated foodstuffs. In each case there is specificity for the etiologic mould. There is controversy regarding the ability of indoor airborne mould spores to cause human disease through non-specific toxicity via the inhalation route. Pulmonary mycotoxicosis is an established, although rare, occupational disease of farmers who inhale enormous quantities of mycotoxins, endotoxins, and other toxic chemicals from contaminated silage. Other conditions attributed to indoor airborne mycotoxin are unproven. These include infantile pulmonary hemosiderosis, epistaxis, 'toxic encephalopathy', immune dysregulation and a variety of subjective complaints without objective signs of pathology such as fatigue, headache, dyspnea, gastrointestinal distress, neuromuscular and skeletal complaints, etc. Non-specific irritation from moulds via the inhalation route is also a controversial subject that remains unproven. Published studies alleging an epidemiologic causal relationship are unconvincing.
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PMID:Sick Building Syndrome: is mould the cause? 1925 24

Idiopathic pulmonary hemosiderosis is characterized by recurrent episodes of alveolar hemorrhage, hemoptysis, and secondary iron deficiency anemia with unknown etiology. It generally emerges in childhood and adolescence periods but rarely found in adulthood. Definite diagnosis is established by appearing the hemosiderin-laden macrophages at sputum, bronchoalveolar lavage, or open lung biopsy. We reported a male patient who was born in 1975, expectorated blood since 1995, and was diagnosed in 1998. He received many blood replacements. He admitted to our clinic in 2003 with complaints of coughing up blood, shortness of breath, and tiredness. We gave the corticosteroid therapy to patient for 6-month period. After treatment, the patient did not have any complaints. Clinicians should keep in mind that idiopathic pulmonary hemosiderosis may differ in localization on chest X-ray and corticosteroid treatment should be started when diagnosis is established.
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PMID:Eight Years Follow-up of a Case with Idiopathic Pulmonary Hemosiderosis After Corticosteroid Therapy. 2239 49

Idiopathic pulmonary hemosiderosis is a very rare condition rarely affecting adults and causing recurrent episodes of diffuse alveolar haemorrhage that may lead to lung fibrosis. Due to lack of pathognomonic findings, IPH diagnosis is established upon exclusion of all other possible causes of DAH in combination with specific pathologic findings revealing bland alveolar haemorrhage with absence of vasculitis and/or accumulation of immune complexes within lung parenchyma. Here we describe a rare case of idiopathic pulmonary hemosiderosis in an otherwise healthy 27-year-old Greek male patient with relapsing episodes of fever accompanied by general fatigue and discomfort. He was at this time point a light smoker and had been hospitalised once in the past for similar symptoms. His iron deficiency anemia coupled with chest high-resolution computed tomography and bronchoalveolar lavage revealed findings compatible with diffuse alveolar hemorrhage. After excluding all other sources of bleeding through extensive gastrointestinal workup and thorough immunologic profile, video-assisted thoracic lung biopsy was performed and the diagnosis of Idiopathic Pulmonary Hemosiderosis was established. Patient was treated with high doses of oral corticosteroids, leading to clinical response. We highlight the need for vigilance by the respiratory physician for the presence of DAH, a challenging, acute condition requiring early recognition along with identification of the underlying syndrome and appropriate treatment to achieve optimal results.
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PMID:Idiopathic pulmonary hemosiderosis in adults: a case report and review of the literature. 2285 75

Copa syndrome is a newly described autosomal dominant autoinflammatory disease that presents as pulmonary hemosiderosis and polyarticular arthritis. Twenty-one cases from five families have been reported to date. We present chest computed tomography (CT) and temporomandibular joint magnetic resonance (MR) findings of a 12-year-old boy presenting with dyspnea on exertion, fatigue and clubbing. Additional findings included a restrictive pattern of pulmonary involvement and positive inflammatory markers and autoantibodies. Genetic testing revealed a p.W240R variant of the COPA gene confirming the diagnosis of Copa syndrome. CT of the chest showed a nonspecific interstitial pneumonia pattern distributed mainly in the lower lobes. MR of the temporomandibular joints and follow-up CT three years later are also described.
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PMID:Imaging findings of Copa syndrome in a 12-year-old boy. 2895 95