Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.

Primary hypertrophic osteoarthropathy (PHO), or pachydermoperiostosis, is characterized by a clinical association including digital clubbing, periostosis and pachydermia. SLCO2A1 and HPGD genes are both responsible for PHO. The pathology is classically defined as an autosomal recessive disorder with clinical variability ranging from a mild to more severe phenotype.

GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors.

Diffuse large B cell lymphoma (DLBCL) is a heterogeneous disease treated with anti-CD20-based immuno-chemotherapy (R-CHOP). We identified that low levels of GAPDH predict a poor response to R-CHOP treatment. Importantly, we demonstrated that GAPDH lymphomas use OxPhos metabolism and rely on mTORC1 signaling and glutaminolysis.

Caloric restriction modulates Mcl-1 expression and sensitizes lymphomas to BH3 mimetic in mice.

Caloric restriction (CR) is proposed to decrease tumorigenesis through a variety of mechanisms including effects on glycolysis. However, the understanding of how CR affects the response to cancer therapy is still rudimentary. Here, using the Eµ-Myc transgenic mouse model of B-cell lymphoma, we report that by reducing protein translation, CR can reduce expression of the prosurvival Bcl-2 family member Mcl-1 and sensitize lymphomas to ABT-737-induced death in vivo.

Bacteremia in patients receiving TNF-alpha antagonists--a prospective multicenter study.

Objective: TNF-alpha antagonists have changed the outcome of various chronic inflammatory diseases. Their use has spread widely and many patients receive those treatments for years. Previous reports found that the use of TNF-alpha antagonists may be associated with an increased risk of serious bacterial infections.

Treatment of severe immune thrombocytopenia associated with systemic lupus erythematosus: 59 cases.

Objective: To evaluate the response to treatment in a large cohort of patients with systemic lupus erythematosus (SLE) associated with autoimmune thrombocytopenia.

Methods: Response to treatment was assessed retrospectively in 59 patients with SLE, either definite (n = 44) or incomplete (n = 15), associated with frank autoimmune thrombocytopenia (defined as platelet count < 50 x 10(9)/l). Response to treatment was classified as complete (CR: platelet count > 150 x 10(9)/l), partial (PR: platelet count > 50 x 10/l), or failure (FR) in the other cases.