Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0003864 (arthritis)
69,039 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our objective was to study the predictive value of the family history in the initial diagnosis of hereditary hemochromatosis. Sixty five hemochromatosis proband patients and 66 control patients with chronic liver disease were assessed for a family history of hemochromatosis, cirrhosis, diabetes, and arthritis. There were no significant differences in the frequency of cirrhosis, diabetes, and arthritis between hemochromatosis patients and control patients. A family history of hemochromatosis was present in 3.6% of hemochromatosis patients and none of the control patients. Multivariate discriminative analysis demonstrated that the combination of cirrhosis, diabetes, and arthritis could only predict the diagnosis of hemochromatosis in 48% of cases. We conclude that a family history of cirrhosis, arthritis, and diabetes is not more common in hemochromatosis patients compared to control patients with chronic liver disease.
...
PMID:Predictive value of family history in diagnosis of hereditary hemochromatosis. 920 Nov

The long-term follow-up evaluation of total knee arthroplasty (TKA) in patients under age 45 is reviewed. One hundred three knees in 67 patients who had an average follow-up period of 7.2 years were retrospectively reviewed. Fifty-eight percent of the patients had rheumatoid arthritis, and 29% had juvenile rheumatoid arthritis. Thirteen percent of the patients had post-traumatic arthritis, avascular necrosis, hemochromatosis, or lupus. The results demonstrate that the success of TKA in this patient population are comparable to those for TKA in the elderly.
...
PMID:Total knee arthroplasty in a group of patients less than 45 years of age. 927 69

Genetic hemochromatosis is a disorder of iron metabolism that results in deposition of massive amounts of iron in the tissues. Arthropathy is one of numerous clinical manifestations associated with this disease. Characteristic radiographic features have been reported in the hand and wrist, and the hip; however, there is no mention in the literature of joint manifestations in the foot and ankle. In this report, the authors present three patients with hemochromatosis arthropathy of the foot and ankle. Two patients presented primarily with foot pain and were treated initially with orthoses. One of these patients went on to have to midfoot arthrodesis performed. The third patient presented with ankle joint symptoms, and was treated successfully with an ankle foot orthosis. The arthritis of hemochromatosis has classic radiographic findings. However, the arthritis of hemochromatosis may be difficult to differentiate from several other joint diseases. Characteristic features of this disease in the foot and ankle are discussed.
...
PMID:Hemochromatosis of the foot and ankle. Report of three cases and review of the literature. 958 73

We describe a patient with hemochromatosis and coexistent infection with the hepatitis C virus who was initially thought to have rheumatoid arthritis. His symptoms began at the age of 44 with pain of the hand joints, shoulders, hips, and knees and a positive rheumatoid factor. Four years later, he required replacement of both hips due to severe hip arthritis. Abnormalities in liver function were noted early on, but they were attributed to infection with the hepatitis C virus, detected serologically and by polymerase chain reaction amplification in the blood. The correct diagnosis was delayed until a decision to use methotrexate as treatment for his arthritis led to a liver biopsy, which revealed increased iron deposition consistent with hemochromatosis, confirmed by genetic testing, which revealed that the patient was homozygous for the C282Y mutation of the HLA-H gene.
...
PMID:Diagnostic confusion caused by hepatitis C: hemochromatosis presenting as rheumatoid arthritis. 1049 93

Population screening for hemochromatosis done by using the transferrin saturation test has been advocated by experts to permit the initiation of therapeutic phlebotomy before the onset of clinical disease. The discovery of a gene associated with hemochromatosis has made DNA testing another option for screening and diagnosis. In this paper, U.S. Preventive Services Task Force criteria are used to evaluate the evidence for the usefulness of population screening done by using iron measures or genetic testing. Published clinical research offers little evidence to suggest that population screening for hemochromatosis done by using genetic testing improves clinical outcomes. Although one recently discovered mutation, C282Y, accounts for 60% to 92% of cases of the disease in series of patients with hemochromatosis, uncertainties remain about the clinical penetrance of various genotypes; the accuracy of genetic testing; and the ethical, legal, and social effects of genetic testing. Before population screening for hemochromatosis done by using transferrin saturation testing can be recommended, laboratory standardization needs to be addressed and questions about risk for clinical disease in asymptomatic persons with mutations or early biochemical expression of disease require resolution. Evidence from case series suggests that hemochromatosis may be associated with liver cancer, other liver disease, diabetes, bradyarrhythmias, and arthritis. In all studies but one, however, estimation of the magnitude and significance of this risk is limited by lack of adequate comparison groups. The need for population data to answer questions about penetrance among asymptomatic persons should not impede efforts to increase the detection and treatment of hemochromatosis in persons found to have elevated iron measures a family history of hemochromatosis, or consistent early signs and symptoms of the disease.
...
PMID:Iron overload, public health, and genetics: evaluating the evidence for hemochromatosis screening. 986 50

There are many different rheumatic symptoms of gastrointestinal (GI) disorders and a whole range of GI symptoms that occur in rheumatologic disorders. Spondyloarthropathies (SpA) are closely related to the GI tract. Bacterial DNA has been detected in peripheral but not the sacroiliac joints of patients, including enterobacteria; the significance of this finding is not clear yet because antibiotic therapy seems not to be effective. The synovial lymphocyte proliferation of reactive arthritis (ReA) patients to the 60-kD heat-shock protein of Yersinia plays a major role in the immune response. Anti-Klebsiella antibodies are associated with gut lesions in SpA; their significance for the pathogenesis of SpA remains uncertain. ReA patients seem to have an impaired TH1-cytokine response, which might contribute to disease persistence. HLA B27-positive subjects seem to have a low tumor necrosis factor-alpha secretor status, possibly leading to diminished immune responses against certain microbes. In patients with Whipple's disease, Tropheryma whippelii can be cultured from gut biopsy specimens when interleukin-4 is added. The gene for hemochromatosis has been identified. Hepatitis C virus DNA can be found in many patients with cryoglobulinemia. Treatment with interferon-alpha might help in some patients. Effective treatment for primary biliary cirrhosis with ursodeoxycholic acid is not helpful for rheumatic symptoms. The severity of esophageal dysfunction in systemic sclerosis does not correlate with symptoms. GI symptoms do, although not frequently, occur in vasculitides.
...
PMID:Rheumatologic manifestations of gastrointestinal disorders. 989 33

Idiopathic hemochromatosis is one of the most common adult genetic disorders in the Caucasian population. The clinical manifestations are various with hepatic, pancreatic, cardiac disorders.... Arthritis associated with idiopathic hemochromatosis are less well-known and differential diagnosis with other arthropathies is sometimes difficult. Early diagnosis enables rapid treatment and better prognosis.
...
PMID:[Osteoarticular hemochromatosis]. 1032 Nov 7

We evaluated the short- to mid-term results of an unconstrained total ankle prosthesis (S. T. A. R.) with uncemented fixation. Fifty consecutive ankle replacements were performed in 48 patients between 1996 and 1999. The initial diagnosis was posttraumatic osteoarthrosis in 31 cases (62 %), primary osteoarthrosis in 8 cases (16 %), and systemic joint affection in 11 cases (22 %), e. g. rheumatoid arthritis (6 cases), hemochromatosis (2 cases), psoriasis arthritis (1 case), lupus erythematodes (1 case), and sclerodermia (1 case). There were two perioperative complications: one superficial wound dehiscence that healed uneventfully, and one injury to the dorsal foot artery that necessitated primary reconstruction. Seven revisions, all in cases of posttraumatic arthrosis, were necessary: local revision of the fibula for painful lateral impingement (3 cases), posteromedial soft tissue revision for painful restriction of dorsiflexion (2 cases), percutaneous lengthening of the Achilles tendon (1 case), and osteotomy and callus distraction for angular correction after stress fracture of the distal tibia (1 case). At the last follow-up control, 21 patients (62 %) were very satisfied, 10 patients (29 %) were satisfied, and 3 patients (9 %) were satisfied with reservations. The obtained range of motion was 30 degrees (range, 15 to 55 degrees ), with a maximal plantarflexion of 25 degrees (range, 15 to 45 degrees ) and dorsiflexion of 5 degrees (-3 to 20 degrees ). When the AOFAS-Hindfoot-Score was applied, the 34 patients scored 84.1 points (range, 44 to 100 points). After settling of the implants within 6 weeks, no migration was noted in any case, and all implants were considered to be stable. The favorable results were considered to be a result of the mechanical properties of the S. T. A. R. total ankle prosthesis that allows for unconstrained motion of the polyethylene inlay on the tibial component, e. g. anteroposterior translation, mediolateral translation and axial rotation. The success of implantation may depend on exact technique, correct hindfoot alignment, sufficient capsuloligamentous stability of the ankle, and a solid bone stock. Although our first results are very encouraging, a longer follow-up is mandatory to answer the question whether ankle replacement is a viable alternative to ankle arthrodesis.
...
PMID:[Short- and mid-term results with the STAR total ankle prosthesis]. 1052 90

Hereditary hemochromatosis (HHC) is one of the most common inherited disorders in the Caucasian population. Diagnosis usually made after an elevation in ferritin and serum transferrin saturation is noted, often accompanied by asymptomatic hepatomegaly. Diagnosis is confirmed by genetic testing or liver biopsy. Damage to organs is due to excessive intestinal iron, which is transported to and then deposited in the liver parenchyma, and the heart, skin, and endocrine organs, causing skin pigmentation, development of cirrhosis and hepatic carcinoma, diabetes and endocrine failure, and heart failure. Bony changes can be manifested by arthritis, often in non-weight-bearing joints. The treatment of HHC is phlebotomy, which depletes iron stores. When diagnosis is made before organ damage occurs, treatment can prevent manifestations of the disease. Skin pigmentation and some cardiac damage may reverse on depletion of iron stores, but liver and endocrine damage is rarely reversible. Arthropathy is also not reversible, and often continues to progress even with effective treatment. When hemochromatosis is diagnosed, all first degree relatives of the patient should undergo genetic testing. With early detection and treatment this can be a manageable chronic disease. If undetected, it is potentially fatal.
...
PMID:Hereditary hemochromatosis: diagnosis and treatment in primary care. 1054 25

Calcium Pyrophosphate Dihydrate (CPPD) crystals deposit in articular fibro- or hyaline cartilage (chondrocalcinosis), joint capsules, synovium, periarticular ligaments and tendons resulting in an age dependent prevalence. These calcifications may be asymptomatic or may manifest as acute pseudogout arthritis, pseudorheumatoid arthritis, bursitis, tenosynovitis, tendinitis, polymyalgic syndrome or chronic pyrophosphate arthropathy. The diagnosis is based on the presence of intracellular CPPD crystals in synovial fluid detected by polarizing microscopy, the characteristic radiological changes and the typical clinical presentations. The therapy is symptom oriented or disease specific in case of an underlying metabolic disease such as hemochromatosis, hyperparathyroidism, hypophosphatasia, hypomagnesemia or hypothyroidism.
...
PMID:[Calcium pyrophosphate deposits--a chameleon]. 1242 37


<< Previous 1 2 3 4 5 6 Next >>