Familial Mediterranean fever, inflammation and nephrotic syndrome: fibrillary glomerulopathy and the M680I missense mutation.

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by inflammatory serositis (fever, peritonitis, synovitis and pleuritis). The gene locus responsible for FMF was identified in 1992 and localized to the short arm of chromosome 16. In 1997, a specific FMF gene locus, MEFV, was discovered to encode for a protein, pyrin that mediates inflammation.

Hypersensitivity pneumonitis due to humidifier disease: seek and ye shall find.

Study Objectives: This study reports a classic case of hypersensitivity pneumonitis (HP) with classic histologic changes in lung tissue and the research used to identify the causative antigens.

Design: A patient with clinical, radiographic, pulmonary function abnormalities and a lung biopsy consistent with HP had no identifiable antigen exposure.

Setting: Evaluation of the patient's activities provided no suggestion of antigen exposure.

Further studies on the detection of early lung and breast carcinoma by T antigen.

We measured the cellular and humoral autoimmune response to carcinoma (CA)-associated T antigen in patients with the earliest clinical stages of lung (T1N0M0) and breast (Tis) CA. We used desialylated MN glycoprotein from healthy human erythrocytes in a single measurement of 1) delayed-type skin hypersensitivity response (DTHR-T) and 2) humoral anti-T response with a solid-phase immunoassay (SPIA-T). DTHR-T detected 19/20 lung CA and 10/12 ductal and 7/10 lobular breast CA patients.

Bleeding in patients with activated partial thromboplastin time inhibitors.

We present a case in which an activated partial thromboplastin time (aPTT) inhibitor may have significantly contributed to prolonged bleeding in a patient and review five similar cases. The possibility of an aPTT inhibitor should be considered in the evaluation of patients with unexplained prolongation of PTT and PT. Such patients may develop significant bleeding even in the absence of other hematologic abnormalities.

Angiosarcoma of the heart. Diagnosis by echocardiography.

Angiosarcoma of the heart is a rare tumor infrequently diagnosed ante mortem. The clinical presentation is usually that of pericarditis or congestive heart failure. This case report illustrates the contribution of echocardiography in suggesting the diagnosis.