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)

We reviewed the results of the Dutch paediatric bone marrow transplant (BMT) program for children receiving HLA-identical BMT for beta-thalassaemia major over an 18-year period. In all, 19 patients underwent a total of 21 transplants in our treatment centre between July 1984 and February 2002. Eight females (age 0.3-12 years; median 5 years) and 11 males (age 0.8-18 years; median 6 years) were included. Information, prospectively collected, included molecular defects, donor genotype, beta/alpha-globin expression rates, serum ferritin levels, hepato-splenomegaly, chelation history, virology screening, liver pathology together with post-transplant outcome inclusive of leucocyte chimerism. In total, 11 patients received standard busulphan/cyclophosphamide (Bu/Cy) conditioning, with or without ATG. Stable engraftment was seen in 5/11 with late rejection occurring in six patients. Of these, two children underwent a second successful SCT. For this group, overall event-free survival (EFS) and disease-free survival (DFS) were 90 (10/11) and 64% (7/11), respectively. The probability of rejection was 55%. Subsequent addition of melphalan to the conditioning regimen resulted in long-term stable engraftment in all patients with an EFS/DFS for this group of 90% (9/10). Treatment-related mortality, irrespective of conditioning, was low at 5% (1/19 patients). Veno-occlusive disease (VOD) occurred in 19% (4/21 transplants) and acute GvHD in 19% (4/21 transplants). Post-BMT beta/alpha synthetic ratio measurement monitored donor erythroid engraftment and predicted rejection with a return to transfusion dependency. Maintained full donor chimerism is indicative of stable engraftment both for leucocyte and erythroid lineages, whereas mixed donor chimerism is not. Our results emphasise the importance of the conditioning regimen and post-transplant chimerism surveillance predictive of rejection or long-term stable engraftment.
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PMID:Paediatric allogeneic bone marrow transplantation for homozygous beta-thalassaemia, the Dutch experience. 1279 87

Efforts have been undertaken to find an alternative approach to packed red cell transfusion (PRCT) in major beta-thalassemia. Augmentation of fetal hemoglobin (HbF) by hydroxyurea (HU) has been reported to be less effective in this condition as compared to sickle cell anemia due to molecular heterogeneity of the former disease. HU efficacy and its relation to Xmn1 polymorphism and IVSII-1 mutation was evaluated in major beta-thalassemics. Forty-five patients, M/F ratio 0.8, aged 6-33 years, received oral HU, 20 mg/kg per day, 4 days per week and daily1 mg folic acid. Thirty-six patients were PRCT dependent (group A) and nine independent (group B). The aim was to stabilize or increase pre-PRCT Hb over 10.0+/-0.5 g/dl and to reduce the need or cease the PRCT in group A and to increase Hb level and curb the ineffective erythropoesis, e.g., splenomegaly, facial bone deformity, in group B. HU was administered for at least 6 months (mean: 9 months) and discontinued in case of response failure. Screening for Xmn1 polymorphism and IVSII-1 mutation was carried out in most patients. In group A, 25 patients have become PRCT independent for a period of 2.5-7.3 years (mean: 4 years). The mean Hb, pre-HU 10.0 and post-HU 10.7 g/dl (range: 8.8-13.7 g/dl), mean serum ferritin pre- and post-HU was1877 and 525 ng/ml. The PRCT requirement was reduced in one patient, and ten patients did not respond. In group B HU has been given over 3.3 years (range: 2.8-4.8 years), Hb increased from 9.3 to 10.4/dl, and there was no tangible progression of ineffective erythropoesis. Responders in both groups expressed more comfort with this regimen. Xmn1 and IVSII-1 (homo- and/or heterozygosis) are relevant markers in most responding patients. Molecular determination of genetic markers in early childhood will help to identify candidates for pharmacological HbF switching by HU.
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PMID:Hydroxyurea in the treatment of major beta-thalassemia and importance of genetic screening. 1472 38

Iron-deficiency anemia is one of the major problems encountered in renal transplant recipients. The aim of this retrospective study was to reevaluate the causes of anemia among 100 anemic kidney recipients. Patients with serum creatinine levels greater than 2 mg/dL were excluded from the study. Female patients were considered to be anemic if the hemoglobin was <12 g/dL for males, <13 g/dL. Complete blood count, serum creatinine, serum iron, iron-binding capacity, ferritin, transferrin saturation, erythrocyte folate, and serum vitamin B(12) levels were measured in all patients. Mean hemoglobin value was 10.2 +/- 1.4 g/dL for female and 9.9 +/- 1.3 for male patients, mean corpuscular volume (MCV) 91.3 +/- 4.9 fL. We observed normocytic anemia in 60, macrocytic anemia in 30, and microcytic anemia in 10 patients. A low level of serum folate was observed in 9 (15%) and of vitamin B(12) in 5 (8.8%) of 60 patients with normocytic anemia. Folate deficiency was found in 18 (60%) and vitamin B(12) deficiency in 12 (40%) of 30 patients with macrocytic anemia. All patients with microcytic anemia had iron deficiency. Splenomegaly was seen significantly more often in patients with macrocytic than normocytic anemia (P =.008). Folate and vitamin B(12) deficiency were the major causes of nutritional anemia; oral or parenteral supplementation with these vitamins is likely to cure the anemia in the majority of cases.
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PMID:Causes of anemia in renal transplant recipients. 1501 34

We report a case of Epstein-Barr virus-associated aggressive natural killer cell leukemia/lymphoma with giant splenomegaly in which splenectomy resulted in progression of apoptosis and hemophagocytosis. The serum level of ferritin, triglycerides, interferon-gamma (IFN-gamma), interleukin 10 (IL-10), and soluble Fas ligand (sFasL) increased markedly, and liver damage progressed after splenectomy. The number of apoptotic cells in peripheral blood smears increased following splenectomy. In the present case, splenectomy caused disruption of the cytokine network, resulting in apoptosis of blood cells and hepatocytes, as well as phagocytosis.
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PMID:Marked elevation of soluble fas ligand and cytokine secretion after splenectomy in aggressive natural killer cell leukemia/lymphoma. 1551 19

Fever of unknown origin (FUO) in adults is a commonly encountered clinical problem. Treatable causes of FUO in the adult should be the primary focus of the diagnostic workup. Neoplasms have replaced infectious diseases as being the most common cause of FUO in adults, and collagen vascular diseases are now relatively rare. The most important collagen vascular diseases presenting as an FUO include Takayasu's arteritis, Kikuchi's disease, polymyalgia rheumatica, and adult juvenile rheumatoid arthritis (JRA) (adult Still's disease). There are no specific diagnostic tests for these disorders, which commonly present as prolonged fevers that are not easily diagnosed (i.e., FUO). Adult JRA is a rare but important cause of FUO in adults. Typically, patients with adult Still's disease present with liver/spleen involvement, posi-articular arthritis, ocular involvement, and evanescent salmon-colored truncal rash. An important diagnostic finding in adult JRA is the presence of a double quotidian fever, which occurs in few other disorders. Only visceral leishmaniasis and adult JRA are causes of FUO in adults associated with double quotidian fevers. Highly elevated serum ferritin levels are the most important nonspecific diagnostic finding associated with adult JRA. We present a case of FUO caused by adult JRA presenting with diffuse polyarticular migrating arthritis, evanescent rash, and splenomegaly. The diagnosis of adult JRA was suggested by these findings in association with a double quotidian fever and a highly elevated serum ferritin level. Clinicians should appreciate the diagnostic significance of fever patterns and the diagnostic significance of elevated serum ferritin levels in patients with FUO.
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PMID:Fever of unknown origin caused by adult juvenile rheumatoid arthritis: the diagnostic significance of double quotidian fevers and elevated serum ferritin levels. 1559 97

Histoplasmosis has rarely been reported in Taiwan, and its clinical manifestations may be similar to those of tuberculosis. With increasing international travel, physicians need to be aware of the possibility of this disease when caring for patients with advanced human immunodeficiency virus (HIV) infection who have traveled to endemic areas. A 55-year-old Chinese male from Burma presented with concurrent histoplasmosis and tuberculous meningitis as the initial opportunistic infection of acquired immunodeficiency syndrome. Fever, altered mentation, pancytopenia, splenomegaly and marked elevations of serum lactate dehydrogenase (3601 U/L) and ferritin (>10(6) ng/mL) were noted. Despite treatment with amphotericin B and antituberculous therapy, the patient died on the 25th day of hospitalization. This case illustrates the complexity and challenges of management of opportunistic infections in travelers returning from Southeast Asia who are in the advanced stage of HIV infection.
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PMID:Meningitis due to Histoplasma capsulatum and Mycobacterium tuberculosis in a returned traveler with acquired immunodeficiency syndrome. 1687 29

The subject was a 22-year-old woman who developed high fever and arthralgias and eruptions in the extremities around June 2005. She sought medical advice at a nearby dermatology clinic, where hepatic dysfunction was noted on blood testing. The patient was thus hospitalized the next day. Although CRP levels were significantly high, no sign of infection was observed and bone marrow cell differentiation was normal. Adult onset Still's disease was diagnosed based on the observation of persistent high fever >39 degrees C, eruptions, increased leukocytes, pharyngeal pain, splenomegaly, hepatic dysfunction, negative autoantibody results from blood testing, and high serum ferritin levels. Administration of prednisolone 30 mg/day was initiated, but proved ineffective. Steroid pulse therapy was conducted, and the subject was transferred to our medical facility for continued treatment. Attempts were made to control the disease using combined steroid and cyclosporine administration; but exacerbation of high serum ferritin levels and hepatic dysfunctions were observed, so a second course of steroid pulse therapy was conducted. Symptoms improved temporarily, but steroid levels were difficult to reduce. Cyclosporine was therefore replaced by methotrexate, and administration of infliximab was initiated. In the course of treatment, administration of a sulfamethoxazole/trimethoprim combination was initiated, but was discontinued due to suspicion of drug-induced hepatic injury. A second administration of infliximab was conducted in late August, and rapid improvements in clinical symptoms and abnormal test values was observed. However, high fever and headache developed suddenly in early September. Based on the results of spinal fluid testing, blood and spinal fluid cultures and MRI of the head, Listeria meningoencephalitis was diagnosed. Diplopia and impaired consciousness occurred during the disease course, and formation of a brain abscess was observed on imaging. However, symptoms were controlled by long-term combination administration of ampicillin and gentamicin. Administration of infliximab was discontinued for treatment of adult onset Still's disease, and steroid levels were reduced following double-membrane filtration plasma exchange. On follow-up, no relapse of symptoms or abnormalities in blood test values were observed, so the subject was discharged from our medical facility in December 2005. In treatment for rheumatic diseases, a dramatic improvement in treatment results for pathologies displaying tolerance against conventional treatments has been acquired with the development of biological drugs. However, opportunistic infections represent a serious problem, and appropriate preventative measures are required. The present report describes a case in which the subject was affected by Listeria meningoencephalitis during administration of infliximab for steroid-dependent adult Still's disease. Since listeriosis is one of the complications, along with tuberculosis, that warrants precautionary measures, this case is reported and discussed.
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PMID:[A case in which the subject was affected by Listeia meningoencephalitis during administration of infliximab for steroid-dependent adult onset Still's disease]. 1681 65

This study aims to report on the clinical and laboratory picture and the disease course and outcome in patients having adult onset Still's disease (AOSD), to briefly review existing literature on the subject, and to compare our findings with those previously reported. Results are reported for 28 patients with AOSD satisfying the preliminary criteria of Yamaguchi et al. seen in a teaching hospital over the last 10 years. A high percent of the patients with AOSD were women. The mean (+SD) age at disease onset was 27.8 (+8.4) years. We found fever in 100%, rash in 85%, arthritis in 64%, lymphadenopathy in 60%, splenomegaly in 57%, hepatomegaly in 35%, pleural effusion in 17.9%, and pericardial effusion in 3.6% of our patients. Leukocytosis was present in 96% of the patients, a normochromic, normocytic anemia in 54%, and an elevated erythrocyte sedimentation rate (ESR) in all. Serum ferritin levels were raised in 89% of the patients. The mean follow-up of the patients was 3.72 + 2.46 years. The mean delay in diagnosis was 7.32 + 18.0 months. The mean time to enter remission was 9.7 months. Self-limited, intermittent, and chronic disease course was seen in 14.3, 57.1, and 28.6% of patients, respectively. The outcome was good in about 89% of patients, and mortality was nil. No particular clinical or laboratory variable was found to predict the subsequent disease course and outcome in our patients. On comparing our data with important previous series, we found a higher percentage of women and of patients presenting in the age group 16-35 years, a lower frequency of arthritis and pericardial effusion, and some other notable differences. Importantly, the disease course was benign, probably as an outcome of heightened awareness and less diagnostic delay than in the past, allowing for early, aggressive, and appropriate treatment. It is concluded that AOSD is now a relatively benign disease if diagnosed early and treated appropriately.
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PMID:Ten years of clinical experience with adult onset Still's disease: is the outcome improving? 1708 84

In a two-year retrospective review of the thalassemia program in our hospital, relevant clinical and laboratory items of information were extracted and analyzed. There were 12 regular attendants; seven males and five females, with a mean age of 6.9 +/- 3.3 years and a mean age at the time of diagnosis of 18.6 +/- 8.7 months. Mean hemoglobin at diagnosis was 6.5 +/- 1.1 g/dL and MCV was 67.9 +/- 4.6 fL. Predominant hemoglobin was HbF (30% to 98%). Presenting features included pallor, abdominal distention, hepatomegaly, splenomegaly and occasional fever. Mean pretransfusion hemoglobin was 8.3 +/- 1.5 g/dL and mean post-transfusion hemoglobin was 12.2 g/dL. Only two (16.7%) had weight less than the 5th percentile; six (50%) had weight >/=25th percentile while eight (66.7%) had height >/=10th percetile. Mean weight gain per year was 1.3 +/- 0.82 kg and linear growth rate was 4.27 +/- 1.66 cm. One patient was positive for hepatitis C virus (detected by antibody) and another was positive for both hepatitis B (both antigen and antibody) and C. Apart from admissions for routing blood transfusion, none of the patients were hospitalzed for any other morbid events in two years. High serum ferritin level (1482 +/- 766 mg/L) despite subcutaneous desferrioxamine remains a problem.
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PMID:Experience with thalassemia major in Al Baha. 1758 16

Neonatal disseminated herpes simplex virus (HSV) infection with acute liver failure (ALF) and neonatal hemophagocytic lymphohistiocytosis (HLH) are severe diseases. We recently experienced a male infant with HLH and ALF induced by HSV type 1 (HSV-1). The infant, born at 39 weeks of gestation by normal delivery, developed a fever on day 4. On day 9, laboratory investigations showed progressive liver dysfunction and coagulopathy, and the serum ferritin was excessively elevated. Furthermore, the blood levels of interleukin (IL)-6, IL-10, and interferon-gamma were also elevated. HSV-1 DNA was detected in the serum and cerebrospinal fluid by the real-time PCR method. A diagnosis of HLH was established based upon the following criteria: fever, splenomegaly, cytopenia (two cell lines), serum ferritin (> 500 mug/l) and hypofibrinogenemia (< 150 mg/dl). High-dose acyclovir therapy, steroid pulse therapy using methylprednisolone, high-dose gamma globulin therapy and a blood transfusion were given. The patient recovered without neurological deficit. Neonatal disseminated HSV infections may be complicated by the development of HLH and hypercyokinemia. If HLH is suspected, not only high-dose acyclovir therapy but also anti-cytokine therapy should be considered.
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PMID:Successful treatment of neonatal herpes simplex-type 1 infection complicated by hemophagocytic lymphohistiocytosis and acute liver failure. 1821 81


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