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)

Sickle cell anemia (SCA) is an inherited disorder of hemoglobin synthesis that is characterized by life-long severe hemolytic anemia, attacks of pain crisis, and chronic organ system damage. A third of the hemolysis in SCA is intravascular and the resulting urinary losses of iron may lead to iron deficiency. There is no evidence of iron overload in SCA and iron deficiency may be more common than suspected, especially in men. Absence of bone marrow iron remains a gold standard for the diagnosis of iron deficiency in these patients. Although low serum ferritin is highly specific for the diagnosis of iron deficiency, its sensitivity is quite low in SCA because of non-specific elevation due to increased red cell turnover. The kinetics of sickling is strongly concentration dependent such that small decreases in the mean corpuscular deoxyhemoglobin-S concentration (MCHC-S) cause a substantial delay in sickle hemoglobin polymerization. Prolongation of the "delay time of gelation" in excess of the capillary transit time may allow the erythrocyte to traverse the capillary bed to escape to the arterial side before there is rheologic impairment of the erythrocyte from polymerization of sickle hemoglobin. Overt iron deficiency lowers the MCHC-S and thereby decreases the sickling tendency and the severity of hemolysis. The clinical improvement in SCA following the induction of iron deficient erythropoiesis by repeated phlebotomies or by erythrocytapheresis has been reported. Prospective controlled studies are needed to evaluate further, the therapeutic strategy of inducing controlled iron-deficient erythropoiesis in selected patients with SCA.
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PMID:Iron in sickle cell disease: a review why less is better. 1270 Nov 23

Sixty-two suitable subjects (mean age: 49.3 years) underwent percutaneous posterior lumbar interbody fusion (PPLIF) using the B-Twin expandable spinal spacer (B-Twin ESS) and were followed thereafter for 2 years or longer. The clinical outcome was expressed by the change in pain intensity as scored on a visual analogue scale and the change in degree of disability as scored by the Oswestry Disability Index. The results were compared with those of a previous trial of PLIF using the B-Twin ESS in which the latter was introduced via the open surgical approach (OPLIF). Mean duration of operation was 103 minutes. Blood loss was negligible. No operative difficulties or complications were encountered. No participant was lost to follow-up. Disc space height had increased by a mean of 10 %. At that time there were no radiographic signs of non-union in any patient. The mean pain intensity and disability scores decreased by 66 % and 61 %, respectively, as compared to those on admission. The clinical outcome of the percutaneous method was comparable to that of the open procedure using the B-Twin ESS; however, the results can be interpreted as favoring the former in the context of minimal invasiveness. Should this outcome be validated in further trials, the technique may be adopted in selective cases.
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PMID:Percutaneous posterior lumbar interbody fusion using the B-twin expandable spinal spacer. 1643 81

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

Background. Anterior or posterior interbody fusion is performed to stabilise the mechanically inadequate segment of the lumbar spine. Posterior lumbar interbody fusion allows for simultaneous decompression of the spinal canal and restoration of the sagittal profile. Anterior interbody fusion allows for stabilisation of the segment without opening the spinal canal. The choice of technique has been the subject of much discussion. Material and methods. 111 patients with degenerative discopathy in the lumbar spine were treated surgically with either PLIF (Posterior Lumbar Intervertebral Fusion) or ALIF (Anterior Lumbar Intervertebral Fusion). The former group consisted of patients with nerve root symptoms; the latter, of patient with discogenic spinal pain. The outcomes were evaluated according to the Oswestry Index, the VAS, and patient satisfaction. Results. There were significant differences between groups in clinical presentation and radiological imaging. The main indication in the PLIF group was the need to decompress the nerve root. In the ALIF group, with no need to open the spinal canal, anterior fusion was performed from the extraperitoneal approach. In preliminary outcome analysis postoperative improvement was noted sooner in the ALIF group. Completion of the outcome analysis is in progress to assess the long-term effectiveness of these techniques. Conclusions. In my opinion the emphasis should be placed on early and proper diagnostic assessment allowing for the introduction of appropriate treatment including surgical intervention, at least in some groups of patients.
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PMID:Surgical treatment of degenerative disc disease using anterior or posterior interbody fusion. 1767 84

Pulmonary thromboembolism is a life-threatening condition resulting mostly from lower extremity deep-vein or pelvic-vein thrombosis. A 46-year-old woman was admitted to hospital with pain on the right side of the chest and hemoptysis. On laboratory analysis, D-dimer level was elevated. Computed tomographic pulmonary angiography revealed intravascular filling defects due to thrombi in right lower lobe pulmonary segmental arteries. Screening for thrombophilic states was normal except for heterozygous mutations of both prothrombin and methylene tetrahydrofolate reductase (MTHFR 677) genes. Homocysteine level was high, and vitamin B12 level and serum ferritin level were reduced. Serum antiparietal antibody was positive, and therefore, pernicious anemia was diagnosed along with iron-deficiency anemia. After the diagnoses were established, enoxaparin followed by warfarin was started in addition to oral vitamin B12, pyridoxine, thiamine, folic acid, and ferroglycine sulfate supplementation. At the end of 8 weeks of the replacement therapy, vitamin B12, folate, and homocysteine levels and red cell volume were found to be normal, with complete resolution of the thrombus confirmed by repeat computed tomographic pulmonary angiography. We conclude that hyperhomocysteinemia due to vitamin B12 deficiency associated with pernicious anemia might have decreased the threshold for thrombosis. In addition, the presence of heterozygous prothrombin and methylene tetrahydrofolate reductase mutations might serve as synergistic cofactors triggering pulmonary thromboembolism.
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PMID:Hyperhomocysteinemia due to pernicious anemia leading to pulmonary thromboembolism in a heterozygous mutation carrier. 1858 84

This study evaluated serum nutrients in 23 patients who had previous Proplast/Teflon implants to their temporomandibular joints (TMJ) and continued to remain in chronic, severe, irresolvable pain despite subsequent surgical reconstruction. All of the patients were women, and their average age was 40.6 years (range, 28-55 years). Standard blood assays were performed for beta-carotene (vitamin A), folate, serum iron, ferritin, zinc, magnesium, and vitamins B1, B6, B12, and C. Each patient was deficient in at least one of these 10 elements, with an average of 3.3 elements. Some factors that may be responsible for the deficiency state include inadequate nutritional intake, malabsorption, utilization dysfunction, increased requirements, or drug interactions. In conclusion, the patient who has had multiple, complex TMJ operations with a history of TMJ Proplast/Teflon implants and poor treatment results may be suffering from an unrecognized malnutrition state, substantially adding to the patient's morbidity. Nutritional evaluations, dietary counseling, and appropriate medical management may improve the treatment outcomes for these patients.
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PMID:Serum nutrient deficiencies in the patient with complex temporomandibular joint problems. 1862 71

The use of biological technologies for the treatment of degenerative spinal diseases has undergone rapid clinical and scientific development. BMP strategies have gained wide support for an inherent potential to improve the ossification process. It has been extensively studied in combination with various techniques for spinal stabilisation from both anterior and posterior approach. We studied the fusion process after implantation of rhBMP-2 in 17 patients with degenerative lumbar spine diseases in combination with dorsal fixation with pedicle screws and poly-ether-ether-ketone (PEEK) interbody cages. We used 12 mg rhBMP-2 carried by collagen sponge, 6 mg in every cage. Patient follow up consisted of pre-operative radiographic and clinical evaluation. Similar post-operative evaluations were performed at 3 and 6 months. Clinical assessment demonstrated clear improvement in all patients despite evidence of vertebral endplate osteoclastic activity in the 3-month radiographs. The 6-month radiograph, however, confirmed evidence of fusion, and no untoward results or outcomes were noted. While previous studies have shown exclusively positive results in both fusion rates and process, our study demonstrated an intermediate morphology at 3 months during the ossification process using Induct Os in combination with peek-cages using a PLIF-technique. The transient resorption of bone surrounding the peek cage did not result in subsidence, pain or complication, and fusion was reached in all cases within a 6-month-controlled evaluation. Although there was no negative influence on clinical outcome, the potential for osteoclastic or metabolic resorption bears watching during the post-surgical follow up.
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PMID:Posterior lumbar interbody fusion using rhBMP-2. 1935 27

Antibodies to cyclic citrullinated peptides (anti-CCP) are highly specific for the diagnosis of rheumatoid arthritis (RA) with a marginal increased prediction of the disease. In this study, we aimed to investigate the relation of the presence of anti-CCP with clinical manifestations and disease activity in a cohort of RA patients. A total of 61 RA patients were included in this study. Data of disease-related parameters such as duration of disease, medications, degree of pain (visual analog scale, VAS), disease activity score 28 (DAS-28) and health assessment questionnaire (HAQ) were recorded. Laboratory workup included erythrocyte sedimentation rate (ESR), plasma C-reactive protein (CRP), rheumatoid factor (RF), anti-CCP, complete blood count and anemia parameters. Anti-CCP positivity was associated with higher scores of DAS-28, longer duration of morning stiffness, serum RF positivity and low levels of serum ferritin, while it was not associated with disease duration, VAS, HAQ, ESR, CRP and hemoglobin.
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PMID:Association of anti-CCP positivity with serum ferritin and DAS-28. 1944 53

There may be a relationship between proton pump inhibitors (PPIs) and iron absorption. PPIs may decrease the amount of iron absorbed gastrointestinally specifically due to alteration of the pH in the duodenum. Restless legs syndrome (RLS) is a sensorimotor disorder that includes an urge to move legs, accompanied or caused by uncomfortable and unpleasant sensations in the legs; the urge to move begins or worsens during periods of rest or inactivity, the urge to move is partially or totally relieved by movement, and the urge is worse or only occurs at night. In the majority of the restless leg syndrome population, the sensation is deep seated, often described as being in the shin bones, and most commonly felt between the knee and ankle. It may be described as a creepy, shock-like, tense, electric, buzzing, itchy, or even numb sensation. A subpopulation of this restless leg syndrome patient population experiences restless leg syndrome associated pain (RLSAP) that has been described as a deep "achy pain." This pain has not been found to be relieved by many of the typical over the counter analgesics. Often, constant movement of the legs appears to be the only remedy, as these sensations usually appear during periods of rest. Furthermore, there appears to be an association between iron deficiency and those suffering from Restless Leg Syndrome (RLS). The authors theorize that there may be a possible correlation between PPIs and the symptoms (e.g. pain) associated with RLS. The authors propose that PPIs, such as omeprazole, may interfere with iron absorption in certain patients and that a subpopulation of patients who develop significant iron deficiency characterized by low serum ferritin levels while on PPIs may also develop RLS-like symptoms (including RLSAP). While there is no robust direct evidence to support any associations of PPIs and iron deficiency or PPIs associated with RLS-like symptoms (including RLSAP), it is hoped that this manuscript may spark research efforts on this issue.
Pain Physician
PMID:Proton pump inhibitors and pain. 1993 88

Fever of unknown origin (FUO) refers to prolonged fevers of > or = 101 degrees F and that persists for > 3 weeks that remain undiagnosed after an intensive in-hospital/outpatient workup. The most common FUO categories of are infectious, neoplastic, rheumatic/inflammatory, and miscellaneous causes. Malignancies have supplanted infectious diseases as the most common cause of FUOs in the adult population. Rheumatic/inflammatory causes of FUO are relatively less common than previously because of the introduction over the years of sophisticated diagnostic tests for most rheumatic diseases. The rheumatic/inflammatory disorders that remain important causes of FUO today are those that cannot be readily diagnosed by readily available/noninvasive tests, for example, adult Still's disease and temporal arteritis (TA). In older patients with FUO, TA can be a difficult diagnosis when the characteristic findings (ie, scalp tenderness, jaw claudication) are not present. Patients with TA presenting as FUO often have only headaches that may be accompanied by bilateral jaw discomfort. Endocrine causes of FUOs are rare. The most common endocrine disorder rarely presenting as an FUO is de Quervain's subacute thyroiditis. As in TA, subacute thyroiditis may present with headache and pain at the angle of the jaw. Both TA and subacute thyroiditis may be accompanied by fatigue, weight loss, and night sweats. We present a case of 55-year-old woman who presented with an FUO with clinical and laboratory findings suggesting TA. However, the absence of thrombocytosis and a normal alkaline phosphatase argued against the diagnosis of TA. Also against the diagnosis of TA was weight loss without loss of appetite and a slightly increased pulse. After nonspecific laboratory test results suggested that TA was not the cause of her FUO, additional tests were ordered. Thyroid function test results suggested the possibility of de Quervain's subacute thyroiditis as the cause of her FUO. To the best of our knowledge, this is the first case of de Quervain's subacute thyroiditis presenting as an FUO with elevated ferritin levels.
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PMID:Fever of unknown origin (FUO): de Quervain's subacute thyroiditis with highly elevated ferritin levels mimicking temporal arteritis (TA). 2010 88


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