[Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis].

Triose phosphate isomerase (TPI) is a crucial enzyme for glycolysis. TPI deficiency is an autosomal recessive metabolic disease described in 1965, which remains exceptional by its rarity (less than 100 cases described worldwide), but by its extreme severity. Indeed, it is characterized by a chronic hemolytic anemia, an increased susceptibility to infections and especially, a progressive neurological degeneration which leads to death in early childhood for the majority of cases.

[Hairy lymphoproliferations: a case report and review of the literature].

Mature B-cell lymphoproliferation with hairy lymphocytes include Marginal Zone Splenic Lymphoma (SMZL), Hairy Cell Leukemia (HCL), Splenic Diffuse Red Pulp Lymphoma (SDRPL), and Variant Hairy Cell Leukemia (HCL-v), the two latter being provisional entities that appeared in the 2008 WHO classification. We report the case of a 75-year-old man who benefited from a diagnostic re-evaluation of his SMZL. The good clinical evolution, the flow cytometry investigation (HCL score < 3, SDRPL score > 3, strong CD180 and CD200/CD180 ratio < 0.

Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B metabolism: A meta-analysis.

Inherited disorders of B metabolism produce a broad spectrum of manifestations, with limited knowledge of the influence of age and the function of related genes. We report a meta-analysis on 824 patients with a genetically proven diagnosis of an inherited disorder of vitamin B metabolism. Gene clusters and age categories are associated with patients' manifestations.

Global Burden Related to Nitrous Oxide Exposure in Medical and Recreational Settings: A Systematic Review and Individual Patient Data Meta-Analysis.

The risk of adverse effects of nitrous oxide (NO) exposure is insufficiently recognized despite its widespread use. These effects are mainly reported through case reports. We conducted an individual patient data meta-analysis to assess the prevalence of clinical, laboratory, and magnetic resonance findings in association with NO exposure in medical and recreational settings.

[Premature rupture of the membranes: analytical evaluation of diagnostic tests].

Premature rupture of the membranes (PROM) is a frequent event affecting 3% of pregnancies. PROM causes 30% of premature deliveries and 20% of perinatal mortality. The diagnosis relies mainly on the clinical visualization of the amniotic fluid flow in the vagina.