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 controlled, open-label and randomized study was conducted to evaluate the safety and efficacy of the oral iron chelator deferiprone (L1) in thalassemia major patients from Hong Kong. Forty-nine patients were recruited in total (median age: 20 years; range: 8 to 40 years). The division of the patients was determined based on liver iron content and put into either the poorly-chelated (Group I) or well-chelated (Group II) groups. In Group I, 20 patients received combined therapy of L1 daily plus desferrioxamine (DFO), in a reduced frequency of twice weekly, while the control group consisted of 16 patients who were treated with DFO alone. In Group II, six patients received L1 only, while the control group consisted of seven patients treated with DFO alone. Only patients who participated for longer than 6 months were analyzed for efficacy (n = 44). The median study period was 18 months. Transient and mild gastrointestinal upset (31%), joint pain (15%) and liver enzyme elevation (23%) were the most common side effects noted for L1. No case of neutropenia was observed in this study. Serum ferritin (SF) levels showed significant decline in the poorly-chelated patients using combined therapy (L1 and reduced frequency DFO) as compared to those on DFO alone. However, their pre- and post-study liver iron content was not significantly different. Evaluation of the well-chelated group demonstrated no significant change in SF or liver iron content in both the study and control arms. We conclude that the short-term use of L1, with or without DFO, was safe and efficacious in our Chinese patient cohort. The long-term efficacy of reducing iron overload by treatment regimens including L1 requires further study.
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PMID:A randomized controlled study evaluating the safety and efficacy of deferiprone treatment in thalassemia major patients from Hong Kong. 1679 52

Adult-onset Still disease (AOSD) is an uncommon disorder characterized by fever, polyarthralgia, elevated white blood cell count, and a maculopapular rash, the histologic features of which have not been well-known. A 55-year-old Asian woman presented initially with a "burning" and severely pruritic eruption on her face, hands, and arms, thought clinically to be urticaria. Within 1 month, she began spiking high fevers, developed diffuse joint pain, and had marked elevations of ferritin, C-reactive protein, and erythrocyte sedimentation rate, characteristic of AOSD. The cutaneous eruption became more widespread, involving the trunk, scalp, and remainder of the extremities, with diffuse thickening of the skin with papular and linear hyperpigmentation and accentuation. Biopsies from several locations showed focal hyperkeratosis associated with dyskeratotic keratinocytes with a peculiar, distinctive distribution in the upper epidermis and cornified layers. In addition, increased dermal mucin was present, with minimal fibroblast proliferation and inflammation. This unusual combination of diffuse dermal mucinosis and a unique pattern of dyskeratosis can present a challenge in generating an accurate differential diagnosis, and may represent an unusual response to chronic scratching or be a distinctive histologic manifestation of AOSD.
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PMID:Unique histopathologic findings in a patient with adult-onset Still disease. 1741 47

Cytokines have not been employed in clinical laboratory tests because of the many biological activities of individual cytokines and too complicated cytokine network. However, abnormal laboratory data and symptoms can be interpreted by blood cytokine levels. [Cytokines attributable to abnormal data and symptoms] For example, cytokines attributable to abnormal data and symptoms in rheumatoid arthritis are as follows: joint pain: TNFalpha, IL-1, IL-6, and IL-18; general fatigue and appetite loss: TNFalpha and IL-1; leukocytosis: G-CSF produced by IL-1-stimulated macrophages etc; thrombocytosis: megakaryocyte potentiating activity of IL-6; anemia: hepcidin up-regulated by IL-6, which inhibits iron absorption from the intestine, and IL-1, which decreases the blood iron level and promotes ferritin synthesis. [Differential diagnosis using blood cytokine levels] Blood cytokine levels are useful and important in the differential diagnosis of inflammatory disorders such as neutrophilia, eosinophilia, and especially in distinguishing tumoral fever from infectious fever in malignant lymphomas. [Disease/disorder-specific cytokines] In recent years, disease- or disorder specific cytokines have been identified, making cytokines more important in clinical use. For example, IL-18 for adult-onset Still disease; IFNgamma for hemophagocytic syndrome; IL-5 for allergic disorders; thrombopoietin for immune thrombocytopenic purpura; vascular endothelial growth factor for POEMS syndrome; PTH-rP for malignancy associated hypercalcemia. [Flow cytometric measurement of cytokines] Recently, a flow cytometric method has been developed in addition to ELISA. With this method, 30 cytokine concentrations can be measured simultaneously within four hours with a wide range of detection limit and high cost performance. Cytokines will be included in laboratory tests with this method.
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PMID:[Blood cytokine levels as a clinical laboratory test]. 1744 72

HFE-related hereditary haemochromatosis (HH) is an iron overload disease attributed to the highly prevalent homozygosity for the C282Y mutation in the HFE gene. The pathophysiology of this error in iron metabolism is not completely elucidated yet, although deficiency of the iron regulatory hormone hepcidin appears to play a role. Ways of diagnosing iron overload include measurement of the serum iron parameters, i.e. serum transferrin saturation and serum ferritin, by a liver biopsy or by calculating the amount of mobilisable body iron withdrawn by phlebotomies. Clinical signs attributed to HFE-related HH include liver failure, arthralgia, chronic fatigue, diabetes mellitus and congestive heart failure. organ failure can be prevented by phlebotomies starting before irreversible damage has occurred. Therefore, screening to facilitate early diagnosis is desirable in individuals at risk of developing HFE-related iron overload. over time it appeared that the clinical penetrance of the HFE mutations was much lower than had previously been thought. This changed the opinion about a suitable screening modality from case detection, via population screening, to family screening as the most appropriate method to prevent HFE-related disease. However, before the implementation of family screening it is vital to have thorough information on the relevance of the specific health problem involved, on the clinical penetrance of C282Y homozygosity and on the effectiveness of the screening approach.
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PMID:Changing aspects of HFE-related hereditary haemochromatosis and endeavours to early diagnosis. 1807 64

A case of steroid-resistant adult-onset Still's disease is herein reported. The patient consulted us because of night fever, arthralgia and evanescent rashes. She was diagnosed with adult-onset Still's disease, with a C-reactive protein (CRP) value of 29.5 mg/dL and serum ferritin level of 4500 ng/mL. The fever, rashes and arthralgia disappeared after medication of medium-dose oral prednisolone, however, the CRP value persisted at high levels, and the serum ferritin level nevertheless increased by 5200 ng/mL. Following the pulse therapy with corticosteroid, the CRP value decreased once but thereafter returned to a high level again. The serum ferritin level did not respond during that therapy. Finally, 10 days after starting the administration of methotrexate, the CRP value dramatically decreased from 7 mg/dL to 0.16 mg/dL, and thereafter the serum ferritin level started to decline, which thus enabled us to eventually taper the dose of oral prednisolone.
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PMID:Steroid-resistant adult-onset Still's disease which showed a quick response to methotrexate. 1827 7

Prolonged spiking fever, an evanescent salmon-colored rash, arthralgia or arthritis, leukocytosis and organ dysfunction are characteristic of adult onset Still's disease (AOSD). A 25-year-old woman with fever lasting over 3 weeks presented to our clinic. The patient had a spiking fever, sore throat, tender lymph nodes, a fine pink-colored skin rash, arthralgia, myalgia with a high ESR, ferritin and elevated hepatic enzymes. NSAID and prednisolone were prescribed for AOSD with SIRS. After 4 days of therapy, with mild confusion, the patient went into status epilepticus lasting several hours and died after cardiovascular collapse. There has been only one case of status epilepticus associated with AOSD in the medical literature. Here we report a case of AOSD with SIRS complicated by fatal status epilepticus.
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PMID:A case of adult onset Still's disease with systemic inflammatory response syndrome complicated by fatal status epilepticus. 1830 88

Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder of unknown etiology. It is characterized by fever, skin rash, polyarthralgias or polyarthritis, sore throat, hepatosplenomegaly, lymphadenopathy, leukocytosis, liver enzyme elevation, and high serum level of ferritin. Several kinds of skin lesions have been reported in this condition. The aim of this study was to assess the clinical and laboratory aspects of 28 patients with AOSD in central Iran. According to the diagnostic criteria of AOSD, we identified 28 patients between 2002 and 2007. We intended to describe the clinical characteristics, treatment, and outcome of our patients with AOSD. Of 28 patients with AOSD, 21 (75%) were female, 7 (25%) were male. Fever (100%), sore throat (92%), Arthralgia (92%), dermatographism (92%), typical rash (85%) and arthritis (60%) were the most common findings. The mean values of laboratory findings were as follows; C-reactive protein (CRP) level of 14.4 mg/dl, erythrocyte sedimentation rate (ESR) of 91.5 mm/h, leukocyte count of 15744.4/microl. Abnormal levels of aspartate aminotransferase and alanine aminotransferase were observed in 25 (89%) patients. Twenty patients (71%) had high ferritin values (>500 ng/ml). The clinical characteristics were similar to previous series. A febrile polyarthritis was the most frequent presentation form. Dermatographism was frequently encountered phenomenon in our patients with AOSD. Being that dermatographism is a simple inducible skin reaction, along with its sensitivity in active disease, we suggest more controlled studies to validate accuracy and positive predictive value of it in convenient clinical setting in the diagnosis of AOSD and to consider including it in diagnostic criteria.
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PMID:Adult-onset Still's disease: a report of 28 cases and review of the literature. 1875 76

Pemetrexed is a multitargeted antifolate approved for the second-line treatment of locally advanced or metastatic non-small cell lung cancer. The combination of pemetrexed with gemcitabine has been studied in several clinical trials showing a promising antitumor activity with a mild toxicity profile. We present the case of a patient who experienced fever, arthralgia, skin rash and high serum ferritin levels after first cycle of this chemotherapy combination, compatible with an adult onset Still's disease. This adverse event has not been previously reported.
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PMID:Adult onset Still's disease after first cycle of pemetrexed and gemcitabine for non-small cell lung cancer. 1900 12

Adult-onset Still disease (AOSD) is an uncommon inflammatory condition of unknown origin typically characterized by four main (cardinal) symptoms: spiking fever > or =39 degrees C, arthralgia or arthritis, skin rash and hyperleucocytosis (> or =10,000 cells/mm3) with neutrophils > or =80%. As many other manifestations are possible, diagnosis is potentially challenging. Determination of the total and glycosylated ferritin levels, although not pathognomonic, can help in diagnosis. The disease evolution of AOSD can be monocyclic, polycyclic or chronic. In chronic disease, joint involvement is often predominant and erosions are noted in one-third of patients. No prognostic factors have been identified to date. Therapeutic strategies are from observational data. Corticosteroids are usually the first-line treatment. With inadequate response to corticosteroids, methotrexate appears the best choice to control disease activity and allow for tapering of steroid use. For refractory disease, biological therapy with agents blocking interleukin-1 (anakinra) and then those blocking interleukin-6 (tocilizumab) seem the most promising.
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PMID:Adult-onset Still disease. 1902 63

Adult-onset Still's disease is a rare disorder of unknown etiology. We report the case of a 39-year-old patient who showed the characteristic symptoms: recurrent attacks of fever, arthralgia, maculopapular rash, sore throat, and lymphadenopathy. After the possibility of an infectious or paraneoplastic process was excluded and the laboratory findings were evaluated (increased C-reactive protein, liver values, and ferritin level), the diagnosis was established according to the criteria of Yamaguchi. Therapy with steroids and nonsteroidal anti-inflammatory drugs was started successfully.
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PMID:[A 39-year-old patient with maculopapular rash, recurrent fever, and arthralgia]. 1954 61


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