[Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency].

Prenatal onset of mitochondrial disease has been described in two cases with recessive mutations in the sideroflexin 4 gene (SFXN4). We present a third case with complex I deficiency associated with novel mutations in SFXN4. Our patient presented with intrauterine growth retardation, neonatal lactic acidosis, and developed macrocytic anemia and optic nerve hypoplasia.

Learning aspects and potential pitfalls regarding detection of pulmonary nodules in chest tomosynthesis and proposed related quality criteria.

Background: In chest tomosynthesis, low-dose projections collected over a limited angular range are used for reconstruction of an arbitrary number of section images of the chest, resulting in a moderately increased radiation dose compared to chest radiography.

Purpose: To investigate the effects of learning with feedback on the detection of pulmonary nodules for observers with varying experience of chest tomosynthesis, to identify pitfalls regarding detection of pulmonary nodules, and present suggestions for how to avoid them, and to adapt the European quality criteria for chest radiography and computed tomography (CT) to chest tomosynthesis.

Material And Methods: Six observers analyzed tomosynthesis cases for presence of nodules in a jackknife alternative free-response receiver-operating characteristics (JAFROC) study.