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.

Rituximab (anti-CD20 monoclonal antibody) as single first-line therapy for patients with follicular lymphoma with a low tumor burden: clinical and molecular evaluation.

The clinical activity of rituximab, a chimeric monoclonal antibody which binds to the CD20 antigen, was evaluated as a single first-line therapy for patients with follicular non-Hodgkin lymphoma (NHL). Fifty patients with follicular CD20(+) NHL and a low tumor burden were analyzed for clinical and molecular responses. They received 4 weekly infusions of rituximab at a dose of 375 mg/m(2).

[Bronchopulmonary cancer, antiphospholipid syndrome and coagulation disorders].

Introduction: The antiphospholipid syndrome includes recurrent thrombotic manifestations related to antiphospholipid antibodies. Adrenal insufficiency is a rare complication of the antiphospholipid syndrome.

Exegesis: We report a case of acute adrenal insufficiency secondary to bilateral adrenal hemorrhage in a 45-year-old man.

[Cancer in patients infected with the human immunodeficiency virus. The unusual aspects].

CANCER AND HIV INFECTION: As the HIV epidemic advances, the spectrum of non-AIDS defining malignancy is expanding. Recent reports suggest an increased incidence of skin cancers, squamous cell carcinomas of the anus, and Hodgkin's disease in HIV-infected patients. Other neoplasms encountered in this setting include oral mucosa, head and neck carcinoma without evidence of increased incidence.

[Tyrosine kinase: implications in tumor pathology and therapeutic perspectives].

The tyrosine kinase family includes growth factor receptor and cytoplasmic enzymes. It plays a key role in normal cell division and abnormal cell proliferation and differentiation. The most common tyrosine kinases are the epidermal-growth factor (EGFR) and platelet-derived growth factor (PDGF) receptors, and a chromosome Philadelphia product, the Bcr-abl oncogene.

[Lung cancer in patients infected with human immunodeficiency virus. Clinical course and therapeutic implications].

Objectives: HIV infection is associated with increased frequency of non-Hodgkin's lymphoma and Kaposi sarcoma. Like other malignancies, lung cancer has been described in HIV-infected patients although no evidence of a statistical correlation has been reported.

Patients And Methods: We performed a retrospective analysis of 15 HIV-infected patients with lung cancer.

[Hypercalcemia associated with hyperleukocytosis, a new paraneoplastic syndrome].

Background: The association of hypercalcemia and leukocytosis constitutes a novel paraneoplastic syndrome rarely reported in the course of head and neck and lung squamous cell carcinoma. We report 7 new cases.

Case Reports: In 5 cases the diagnosis was well-differentiated squamous cell carcinoma, in 1 differentiated non-small-cell carcinoma and in 1 adenocarcinoma of unknown origin.

Investigation of the thoracic aorta in cholesterol embolism by transoesophageal echocardiography.

Objectives: To examine the thoracic aorta of patients with severe cholesterol embolism (CE) by transoesophageal echocardiography (TOE).

Methods: The thoracic aorta of 20 consecutive patients with CE was compared with that in a control population matched for age and risk factors by TOE. Patients were prescribed steroids after CE was diagnosed.

[Diagnosis of intravascular lymphoma on a muscular biopsy].

Intravascular lymphomatosis is characterized by a proliferation of malignant lymphoid cells within the lumen of arteriola, capillaria or venula. It is a very rare neoplasia (less than 200 cases reported). Many organs can be involved, but preferentially the central nervous system.

[Hyponatremia during treatment with cisplatin].

Background: Cisplatin is one of the most widely used agents in cancer treatment. Cisplatin regimens can lead to a more or less pronounced hyponatremia in 4 to 10% of cases due to salt wasting with hypomagnesemia and normokaliemia. Functional and renal failure and orthostatic hypotension can be observed.

[Spinal cord compression of sarcoidosis origin: a case].

This observation reports the case of a rapid paraparesia occurring in a young man. Imaging disclosed a spina tumor. Diagnosis of sarcoidosis leads us to suspect a specific spinal granuloma involvement and to start corticosteroid pulses.