Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a two-month -old female infant, who after a severe diarrhoea treated with prolonged intravenous infusion in peripheral veins alternated with total parenteral feeding, developed a Candida albicans septicemia (accompanied by disseminated intravascular coagulation syndrome) is reported. The course of her disease was also complicated by multiple foci of osteoarthritis in both knees, in the left hip and in several long-bones. Radiographically the foci of Candida osteitis appeared as fine erosion of the cortex and minute round areas of osteolysis in the spongiosa, surrounded by a rim of perifocal sclerosis. During the acute stage of Candida sepsis a transitory cellular immunodeficiency was present. Treatment of Candida infection by 5-fluorocytosine was followed by complete recovery.
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PMID:Disseminated arthritis and osteitis by Candida albicans in a two month old infant receiving parenteral nutrition. 40 39

Thorotrast, a colloidal suspension of 252Th dioxide, was widely used as a radiographic contrast medium for more than 25 y after its clinical practice introduction in 1930. Its excellence as a contrast medium was ultimately eclipsed by its long-term associated morbidities, and its use essentially ended by 1954. This case history presents the clinical events in the last 10 y of life in a patient injected with Thorotrast in 1953. This patient developed three previously described Thorotrast-associated morbidities: pneumococcus sepsis due to functional asplenia and reticuloendothelial system blockade, an enlarging Thorotrastoma (inflammatory mass) at the injection site, and a fatal blood dyscrasia. In addition, she developed three clinical syndromes where a Thorotrast association may exist. She suffered from severe spinal column osteoarthritis and vertebral collapse. An abnormal bone-density measurement implies the presence of radiodense radioactive thorium or its degradation products as potentially responsible. She had evidence of chronic immune system disregulation with immunoglobulin excess, auto antibodies, and cell-mediated immunity deficiency. This condition is similar to that found in patients infected with human immunodeficiency virus and may suggest a shared etiology in reticuloendothelial system damage. Lastly, she developed dense bilateral cataracts. This case history illustrates the temporal relationship of a variety of symptoms. Discussion is directed at review of previous data and support for new associations.
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PMID:Clinical consequences of Thorotrast in a long-term survivor. 152 4

In a 10-month prospective study a research assistant identified 411 patients with rheumatic disease at the 2 referral hospitals in Harare. Rheumatic disease accounted for less than 1% of hospital admissions. Rheumatoid arthritis, the commonest condition, accounted for 18% of patients, many of whom had impaired functional capacity. Septic arthritis (16%) was common in younger patients, often affecting the hip or knee and often associated with other complications of disseminated staphylococcal infection. Osteoarthritis (9%), rheumatic fever (7%), gout (6%), human immunodeficiency virus associated musculoskeletal problems (6%) and systemic lupus erythematosus (5%) were relatively common while the spondyloarthropathies occurred less frequently. The spectrum of rheumatic disease seen in teaching hospitals in Harare, although significantly different from that seen in Europe and North America, approximates the pattern seen in developed countries more closely than previous studies from Africa would suggest.
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PMID:A prospective analysis of patients with rheumatic diseases attending referral hospitals in Harare, Zimbabwe. 179 22

Adults with arthritic conditions are seen frequently in primary care clinics. However, more than 100 different entities can produce joint and muscle symptoms, which makes it challenging to correctly diagnose musculoskeletal complaints. There are several logical steps to follow in assessing joint disorders. The first is to differentiate between what is and what is not arthritis. Additional steps necessary for an appropriate diagnosis include analysis of a thorough history, physical examination, and laboratory and X-ray results. It is of critical importance to identify the most common forms of arthritis, as well as the specific conditions that require immediate referral. The onset, incidence, findings and pathophysiology of the following entities in the adult population are discussed: septic arthritis, osteoarthritis, rheumatoid arthritis, the crystal-induced diseases, human immunodeficiency virus (HIV) and arthritis, the seronegative spondyloarthropathies and systemic lupus erythematosus.
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PMID:Evaluating arthritic complaints. 200 41

Contrary to previous belief, there is increasing evidence that a broad spectrum of rheumatic diseases do affect African blacks. Although properly conducted epidemiological studies have yet to be performed, reports of population surveys from a variety of sub-Saharan African countries indicate that diseases such as rheumatoid arthritis (RA), gout, and the connective tissue diseases are observed, although some differences in clinical presentation may occur as a result of cultural, racial, and socioeconomic factors. Rheumatoid arthritis is common in some parts of Africa and less common in others. In particular, a significantly lower prevalence of RA in rural areas compared with urban cohorts has led to the hypothesis that environmental factors associated with urbanization may be involved in disease pathogenesis. A similar hypothesis has been suggested for hyperuricemia and gout. Clinical features of disease may also be different in Africans when compared with other population subgroups such as with systemic lupus erythematosus although this may be artefactual as different accessibility to health care and referral practices may result in only the more severe cases coming to medical attention (eg, lupus nephritis). Immunogenetic factors may reduce the prevalence of some conditions such as the spondyloarthropathies. Although the association between HLA-DR4 and RA holds true in Africans, the same is not so for the association of HLA-B27 with ankylosing spondylitis (AS). The prevalence of HLA-B27 in African blacks is 10 times less than Caucasian populations, in part accounting for the low prevalence of spondyloarthropathies, although its association with AS is low. Other conditions such as human immunodeficiency virus (HIV)-related arthropathies appear to be an increasing medical problem. The panepidemic of acquired immunodeficiency syndrome in Africa has resulted in an increased awareness of the different types of arthritis that may be associated with HIV. These are similar to those reported in other parts of the world, although risk factors are different in Africa where heterosexual transmission is a more common cause than homosexual transmission or i.v. drug usage. Information on other rheumatic diseases such as osteoarthritis and soft tissue rheumatism are slowly emerging. Rheumatic manifestations of the infectious diseases, which are endemic in Africa, remain a uniquely fascinating aspect of rheumatology practice on the African continent. Therefore, African countries will increasingly be a continued valuable source of clinical material for comparative studies to help elucidate factors that influence the development of rheumatic diseases.
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PMID:Rheumatic diseases in African blacks. 783 55

There have been few epidemiological studies of bone and joint diseases in black Africa. Available data were generated by hospital studies which were inevitably flawed by selection bias. They found that the incidence and/or severity of rheumatoid arthritis were reduced in West Africa but not in urban areas of Southern and East Africa, as compared with industrialized countries. Ankylosing spondylitis was infrequent. The human immunodeficiency virus epidemic can be expected to increase the prevalence of spondyloarthropathies despite the fact that few black Africans are HLA B27-positive. Gout was the most common inflammatory joint disease seen in inpatients in West Africa and Equatorial Africa. Osteoarthritis of the fingers or hip and dysplasia of the hip were infrequent. The main causes of hip symptoms were sickle cell anemia and hemoglobin C disease whose manifestations include bone necrosis, osteomyelitis, and attacks of bone and joint pain. Osteoarthritis of the knee was common in West and Southern Africa, especially in obese women. Low back pain and sciatica due to disc herniation were as common as in Europe. Lumbar canal stenosis appeared more common in West Africa than in Southern Africa, with a predominance in females. Postmenopausal osteoporosis was exceedingly rare. Infectious diseases were prevalent as a result of underindustrialization and defective hygiene. The paucity of rheumatologists, young mean age of the population, and scarcity of population-based studies are sources of bias which should be taken into account when interpreting the available data on rheumatological diseases in black Africa. In the future, more rigorous studies made possible by increased access to health care will provide improved insight into the semiology and epidemiology of bone and joint diseases in this area.
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PMID:[Rheumatic diseases in black Africa]. 812 80

Hyaluronic acid has been used successfully in the treatment of osteoarthritis since 1989. There is no experience in haemophiliacs in larger study groups. In a prospective study, 20 patients (21 knees) with haemophilic arthropathy of the knee received 20 mg hyaluronic acid by intra-articular injection for 5 consecutive weeks. Assessment included clinical scores, X-ray, magnetic resonance imaging (MRI) and biomechanical motion analysis before and 3 months after the first injection. The score of the WFH advisory committee and the Aichroth score for special evaluation of the knee were used. After an average period of 26 months, the World Federation of Hemophilia (WFH) score, the Aichroth score and the visual analogue scale were evaluated again. All patients had pain caused by their arthropathy, nine of them had positive antibodies to human immunodeficiency virus, and 15 had chronic hepatitis C. The mean WFH score was 8.1 points, the Petterson score was 7.3 points and the Aichroth score was 38 points (maximum 55 points). The WFH score decreased to 7.3 points, the Aichroth score improved to 40 points and the subjective assessment measured with a visual analogue scale improved from 5.3 to 3.7 points. No differences from MRI controls were detected. After 3 months, 14 of 20 patients improved subjectively, particularly in longer walking distance, stair-climbing or initial pain. These positive aspects were limited by arthropathy in adjacent joints. After 26 months 10 patients still are benefiting for up to 31 months follow-up. The average WFH score was 7.3 points, the Aichroth score 39 points, the visual analogue scale 4.0 points. We recommend hyaluronic acid for haemophilic arthropathy of the knee when regular conservative therapy has failed and operative treatment is not feasible.
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PMID:Intra-articular hyaluronic acid in the treatment of haemophilic arthropathy of the knee. Clinical, radiological and sonographical assessment. 1101 3

Human immunodeficiency virus (HIV) can be transmitted through tissue or organ transplantation. Since 1988, eight cases of bone transplantation-associated HIV infection have been reported. We describe a 34-year-old woman with osteoarthritis, who was hospitalized in 1996 because of painful locomotion and deformity in the right knee. An old fracture of the femur and genu varum in the right knee was repaired by open reduction and internal fixation, with allogeneic bone transplantation for defect reconstruction. Five months later, she presented at another hospital with pain and swelling of the right thigh, where screening for HIV was positive. The transmission was tracked to a 50-year-old man with no history of HIV screening, from whom the femoral head was procured when he underwent a hip replacement for left femoral neck fracture. This is the first reported case of HIV infection through bone transplantation in Taiwan, and the preventable nature of this transmission should be underscored.
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PMID:Transmission of human immunodeficiency virus through bone transplantation: a case report. 1143 17

Iatrogenic Cushing syndrome with secondary adrenal insufficiency is a rare but recognized complication of intra-articular corticosteroid injection. Recent reports suggest that the risk of this serious complication is significantly higher in human immunodeficiency virus (HIV)-infected patients receiving ritonavir-based antiretroviral regimens. This article describes a case of a 44-year-old HIV-infected man taking ritonavir who required admission to the intensive care unit (ICU) for hyperosmolar hyperglycemic state following injection of triamcinolone acetonide 80 mg into his right hip for osteoarthritis. Within 3 days of the injection, he developed polydipsia, polyphagia, polyuria, fatigue, and malaise and lost 10 lbs. Laboratory evaluation revealed a blood glucose of 766 mg/dL, and serum pH was 7.36 (normal, 7.31-7.41). After 3 days in the ICU, he was discharged on detemir insulin 15 units subcutaneously daily and sliding scale insulin aspart. Seven weeks after the injection, his detemir insulin had been titrated to 41 units daily, and his serum triamcinolone acetonide concentration was 0.39 mcg/dL (normal, <0.03 mcg/dL). His morning plasma cortisol level was 1.6 mcg/dL (normal, 4-24 mcg/dL), and his adrenocorticotropic hormone concentration was <5 pg/mL (normal, 7-50 pg/mL), consistent with suppression of his hypothalamic-pituitary-adrenal axis. We believe that systemic absorption of triamcinolone and decreased metabolism of triamcinolone due to ritonavir caused this profound and persistent hyperglycemia and hypothalamic-pituitary-adrenal axis suppression. This case highlights the need for heightened awareness of potential interactions to avoid important adverse effects in patients who receive intra-articular corticosteroids.
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PMID:Metabolic derangement after injection of triamcinolone into the hip of an HIV-infected patient receiving ritonavir. 1963 8

We report a case of Staphylococcus aureus endocarditis, with large vegetation, in a 17-month-old male infant, complicated with meningitis, ischaemic strokes and osteoarthritis leading to haemorrhagic stroke by aneurysm rupture. He did not present any risk factor for endocarditis. The final course was favourable through, after valve replacement. The strain was sensible to methicillin and belongs to complex clonal 398, with accessory gene regulator I. We did not found immunodeficiency.
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PMID:Methicillin-sensible Staphylococcus aureus causing endocarditis, with cerebral and orthopaedic complications, in a 17-month-old child with no risk factor. 3031 6


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