Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age.
Case Presentation: We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation.After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis.
Asian Pac J Allergy Immunol
May 2022
Background: Local anesthetics (LA) are widely used in medicine and are generally well tolerated. Although most adverse reactions are nonallergic, LA are a frequent reason for allergy consultation.
Objective: We want to expand the differential diagnosis of adverse reactions to LA by presenting rare diagnoses.
Eur Heart J Qual Care Clin Outcomes
February 2023
Study Objective: To compare the efficacy and safety of Cavaterm thermal balloon endometrial ablation with hysteroscopic endometrial resection.
Design: Multicenter randomized trial (Canadian Task Force classification I).
Setting: Departments of obstetrics and gynecology in French university hospitals.