Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The osteoarticular complications of drepanocytosis-thalassemia (DT) include: 1) bone infarction, or avascular necrosis (AVN), common at all ages; 2) acute septic arthritis and hematogenous osteomyelitis, that usually affect infants and children. Early diagnosis and treatment of the osteoarticular infectious complications is imperative, to maximize the chances of a favorable outcome, and to prevent the sequelae, ie pathological fractures, chronic osteomyelitis. Early roentgenographic features of involved areas are similar in acute osteomyelitis and in AVN--both of which cause painful bone crises, so as to make osteomyelitis (OM) a diagnostic challenge. Four cases of DT are reported. The patients, 17 to 37 years old, presented with bone infarcts. One of them (the youngest) had also multiple osteomyelitis of long bones. The 99m-Tc-MDP bone scans, performed only on the youngest patient, affected by OM, revealed increased uptake in both AVN and in OM locations, without differential diagnostic features. After a review of the literature, a diagnostic protocol is suggested, based on 99m-Tc colloid marrow scintigraphy for the early differential diagnosis between acute OM (normal or slightly-increased uptake), chronic OM (markedly increased uptake), and AVN (decreased uptake). Furthermore, MR imaging is stressed as the most promising tool, in the next future, for this kind of differential diagnosis.
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PMID:[Articular complications in sickle cell-thalassemia after childhood. Diagnostic problems]. 320 19

A review of the literature during the past year on rheumatic manifestations in hematologic diseases supports the idea that 80% of the hemorrhage in hemophilia occurs within the joints, with knees, elbows, and ankles being the most affected joints in adults. In contrast, the ankle is the target joint in children. Septic arthritis in hemophilic patients is becoming more important due to the advent of HIV infection. Radioactive synoviorthesis in hemarthrosis has the same rate of success as surgical synovectomy, but with far lower costs. A new study documents the association of arthritis and vasculitis in patients with myelodysplasic syndromes and lymphoproliferative disorders. An increased incidence of scoliosis in patients with beta-thalassemia has been noted. Finally, the effects of bone marrow transplantation in patients with previous autoimmune diseases is reviewed. Progression of rheumatoid arthritis after bone marrow transplantation is documented in a patient with 13 years of follow-up. Hematologic disorders in rheumatic diseases are not the topic of this review.
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PMID:Rheumatic manifestations of hematologic disorders. 944 95

The effect of HIV infection on immune response to diphtheria and tetanus primary immunisation was investigated in 24 HIV-1-positive multi-transfused (MT) children with thalassaemia and compared with 48 HIV-1-negative MT thalassaemic children and 36 HIV-1-negative non-transfused (NT) children in the community. Diphtheria and tetanus antibody levels in the HIV-1-positive MT group were comparable with the two HIV-negative groups. The proportions of children with antibody titres below the protective level (i.e. <0.01 IU/ml) for antidiphtheria antibodies were 20.8, 16.6 and 16.6%, and 12.5, 12.5 and 13.9% for anti-tetanus antibodies in the three groups, respectively. On the other hand, delayed-type hypersensitivity (DTH) response to diphtheria and tetanus antigens was significantly depressed in the HIV-1-positive group compared with the HIV-negative controls. The mean percentages of both mature (CD20+) and immature (CD10+) B-cell counts were significantly higher in the HIV-1-positive group than in the HIV-negative MT and NT groups (p<0.05). Levels of serum immunoglobulins and spontaneously secreted immunoglobulins were significantly higher in the HIV-1-positive group compared with both HIV-negative groups. The HIV-1-positive group showed a mean (SD) IL-6 of 52.9 (28.8) pg/ml compared with 23.7 (12.1) pg/ml and a detection rate of 54.2% in the HIV-negative MT group, and 23.6 (8.2) pg/ml and a 50% detection rate in the HIV-negative NT group. The IL-2 level was significantly lower (p<0.05) in the HIV-1-positive group [41.7% detection rate and mean (SD) 28.8 (17.1) pg/ml] than in the HIV-negative MT and NT groups [75% and 83.3% detection rates and mean (SD) 57.2 (42.3) pg/ml and 99.3 (51.1) pg/ml, respectively]. During follow-up for 3 years, the frequency of major infections was significantly higher in the HIV-1-positive group than in the other two groups. Acute pneumonia and acute sinusitis were the predominant infections regardless of HIV status while primary bacteraemia, osteomyelitis, pyogenic meningitis and septic arthritis were common in the HIV-1-positive group. We conclude that, in HIV-1-infected children pre-immunised with DPT, DTH response to diphtheria and tetanus antigens might be more reliable than anti-diphtheria and anti-tetanus antibody levels in predicting susceptibility to major bacterial infections.
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PMID:Immune response in HIV-1-infected children with thalassaemia given a primary course of DPT vaccine before acquiring HIV-1 infection. 1473 76

Melioidosis, an infection caused by the bacterium Burkholderia pseudomallei, has a wide range of clinical manifestations. Here, we describe rheumatological melioidosis (involving one or more of joint, bone or muscle), and compare features and outcome with patients without rheumatological involvement. A retrospective study of patients with culture-confirmed melioidosis admitted to Sappasithiprasong Hospital, Ubon Ratchathani during 2002 and 2005 identified 679 patients with melioidosis, of whom 98 (14.4%) had rheumatological melioidosis involving joint (n=52), bone (n = 5), or muscle (n = 12), or a combination of these (n=29). Females were over-represented in the rheumatological group, and diabetes and thalassemia were independent risk factors for rheumatological involvement (OR; 2.49 and 9.56, respectively). Patients with rheumatological involvement had a more chronic course, as reflected by a longer fever clearance time (13 vs 7 days, p = 0.06) and hospitalization (22 vs 14 days, p < 0.001), but lower mortality (28% vs 44%, p = 0.005). Patients with signs and symptoms of septic arthritis for longer than 2 weeks were more likely to have extensive infection of adjacent bone and muscle, particularly in diabetic patients. Surgical intervention was associated with a survival benefit, bur not a shortening of the course of infection.
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PMID:Rheumatological manifestations in patients with melioidosis. 1905 1

Vibrio vulnificus infection is an uncommon but potentially fatal disease in children such that prompt recognition has prognostic implications. We describe here the case of a 9-year-old female with thalassemia and iron overload who presented with septic arthritis as an atypical initial manifestation of fatal V. vulnificus septicemia. This report underscores the possibility of septic arthritis as an early manifestation of V. vulnificus septicemia. Pediatricians should be alert to this extremely invasive disease, especially in children with iron overload.
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PMID:Septic arthritis as the initial manifestation of fatal Vibrio vulnificus septicemia in a patient with thalassemia and iron overload. 1959 Dec 24

Melioidosis, an infection due to gram negative Burkholderia pseudomallei, is an important cause of sepsis in east Asia especially Thailand and northern Australia. It usually causes abscesses in lung, liver, spleen, skeletal muscle and parotids especially in patients with diabetes, chronic renal failure and thalassemia. Musculoskeletal melioidosis is not common in India even though sporadic cases have been reported mostly involving soft tissues. During a two-year-period, we had five patients with musculoskeletal melioidosis. All patients presented with multifocal osteomyelitis, recurrent osteomyelitis or septic arthritis. One patient died early because of septicemia and multi-organ failure. All patients were diagnosed on the basis of positive pus culture. All patients were treated by surgical debridement followed by a combination of antibiotics; (ceftazidime, amoxy-clavulanic acid, co-trimoxazole and doxycycline) for six months except for one who died due to fulminant septicemia. All other patients recovered completely with no recurrences. With increasing awareness and better diagnostic facilities, probably musculoskeletal melioidosis will be increasingly diagnosed in future.
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PMID:Burkholderia pseudomallei musculoskeletal infections (melioidosis) in India. 2041 12

Non-typhoidal Salmonella, particularly Salmonella enterica serovar typhimurium is food borne pathogen causing mild self-limiting diarrhoea in healthy adults. It can occasionally cause extraintestinal focal infection in susceptible patients. Salmonella, as the aetiological agent of osteomyelitis and septic arthritis is rare and has been mostly reported in patients with sickle cell disease or thalassaemia. We report a case of septic arthritis by Salmonellatyphimurium in an immunocompromised patient who was successfully treated following timely isolation and identification of the aetiological agent.
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PMID:An Unusual Case of Septic Arthritis of the Hip. 2805 Mar 70

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.
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PMID:Imaging of Thoracic Wall Abnormalities. 3154 69