321 research outputs found

    The role of CD247 polymorphisms in Bulgarian patients with systemic lupus erythematosus

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    Decreased expression of the TCR ζ-chain has been reportedin several autoimmune and inflammatory diseases. Recent evidence suggeststhat this deficiency may be due to polymorphisms in the CD247gene. A total 52 patients with systemic lupus erythematosus (SLE) and95 healthy controls of Bulgarian ethnicity were genotyped for 837C&gt;G,rs1052230, 844A&gt;T, and rs1052231 using a TaqMan genotyping assay.None of the two polymorphisms appeared associated with the diseases.On the other hand, we have found that the -837GG genotype and the Gallele were associated with hematological disease. The -844AA genotypeand the A allele appeared associated with the hematological disease aswell. The -843AA genotype and the A allele were found to be associatedwith antinuclear antibody (ANA) tests and immunological disease. Anassociation was found between the -837G allele and arthritis. The AGhaplotype was found to be associated with hematological disease, ANA,and immunological disease. Our preliminary data confirm the previousfindings that the CD247 polymorphisms are mainly associated with theclinical outcome of the disease and less with susceptibility.</p

    Cutaneous larva migrans with optic disc edema: a case report

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    <p>Abstract</p> <p>Introduction</p> <p>A rare case of optic disc edema associated with cutaneous larva migrans is presented. To the best of our knowledge, this has not been previously reported in literature. Joint management by ophthalmology and tropical medicine teams proved most beneficial for our patient, facilitating correct diagnosis, appropriate investigations and instigation of suitable treatment.</p> <p>Case presentation</p> <p>A 45-year-old Caucasian man, a naturalist, from the UK developed cutaneous larva migrans while in Kenya and presented to us with visual disturbance secondary to unilateral optic disc edema. This resolved after receiving a single dose of ivermectin and visual acuity reverted to normal.</p> <p>Conclusion</p> <p>To the best of our knowledge, optic disc edema associated with cutaneous larva migrans has not been previously reported. This case highlights the importance of taking relevant history of recent travel to endemic areas affected by the nematodes in patients presenting with optic disc edema, and pertinent questioning regarding non-ocular symptoms, including skin lesions. In this case, a history of recent foreign travel and treatment for skin lesions was crucial.</p

    Kaposi Sarcoma Herpes Virus-associated Hemophagocytic Syndrome Complicated by Multicentric Castleman Disease and Kaposi Sarcoma in a HIV-negative Immunocompetent Patient: An Autopsy Case

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    Kaposi sarcoma herpes virus (KSHV), also known as human herpesvirus-8, plays an important role in the pathogenesis of Kaposi sarcoma (KS), multicentric Castleman disease (MCD) of the plasma cell type, and primary effusion lymphoma. KSHV is rarely associated with the hemophagocytic syndrome (HPS), but when it does occur, it most occurs in immunocompromised patients. We report herein an unusual case of KSHV-associated HPS in an immunocompetent patient. A previously healthy 62-yr-old male was referred for evaluation of leukocytopenia and multiple lymphadenopathies. After a lymph node biopsy, he was diagnosed with MCD of the plasma cell type. KSHV DNA was detected in the lymph node tissue by polymerase chain reaction. Following a short-term response of the leukocytopenia to prednisolone, mental change, left side weakness, fever, thrombocytopenia, hemolytic anemia, and renal failure developed. Despite intravenous immunoglobulin therapy and plasmapheresis, he expired. The lymph nodes were infiltrated by hemophagocytic histiocytes in the sinuses. Pulmonary nodules and gastric erosions were shown to be KS. KSHV DNA was detected in the stomach, lung, and liver. This is the first case of multiple KSHV associated diseases including MCD and KS with KSHV-associated hemophagocytic syndrome in an HIV-negative, non-transplant, immunocompetent patient
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