Features of the popliteal lymph nodes seen on musculoskeletal MRI in a Western population

To asses the features and explore the clinical relevance of popliteal lymph nodes (PLNs) detected on MRI examination for different pathologies of the knee. A total of 150 knee MRIs, which were conducted for various indications, were retrospectively collected from the Picture Archiving and Communication System. Imaging planes in at least two orthogonal planes were mandatory, with a field of view extending 15 cm cranial from the joint space. The localization of the PLN was determined by measuring the distance of the lowest border of the PLN to the lowest border of the lateral femoral condyle. Clinical diagnosis was obtained from radiology reports and a statistician performed the statistical analysis. The patients were 70 males [mean age 36.6 years (range: 5-72 years)] and 80 females [mean age 41.1 years (range: 9-76 years)]. In 36.7% of the patients, a PLN was visible. The number of PLNs was negatively associated with age (p < 0.001). The mean number of PLNs was 0.5 PLN per patient. The mean length, height, and width were respectively: 0.57 cm (SD = 0.15), 0.84 cm (SD = 0.26), and 0.71 cm (SD = 0.23). The mean location was 5.8 cm (SD = 1.61). No association was found between the presence of PLNs and internal derangement, inflammation, or cancer (p = 0.368). PLNs appearance is age related, with a higher frequency at a young age. The presence of the PLNs showed no relation to a specific clinical situatio

The actin-binding protein profilin 2 is a novel regulator of iron homeostasis

Cellular iron homeostasis is controlled by the iron regulatory proteins (IRPs) 1 and 2 that bind cis-regulatory iron-responsive elements (IRE) on target messenger RNAs (mRNA). We identified profilin 2 (Pfn2) mRNA, which encodes an actin-binding protein involved in endocytosis and neurotransmitter release, as a novel IRP-interacting transcript, and studied its role in iron metabolism. A combination of electrophoretic mobility shift assay experiments and bioinformatic analyses led to the identification of an atypical and conserved IRE in the 39 untranslated region of Pfn2 mRNA. Pfn2 mRNA levels were significantly reduced in duodenal samples from mice with intestinal IRP ablation, suggesting that IRPs exert a positive effect on Pfn2 mRNA expression in vivo. Overexpression of Pfn2 in HeLa and Hepa1-6 cells reduced their metabolically active iron pool. Importantly, Pfn2-deficient mice showed iron accumulation in discrete areas of the brain (olfactory bulb, hippocampus, and midbrain) and reduction of the hepatic iron store without anemia. Despite low liver iron levels, hepatic hepcidin expression remained high, likely because of compensatory activation of hepcidin by mild inflammation. Splenic ferroportin was increased probably to sustain hematopoiesis. Overall, our results indicate that Pfn2 expression is controlled by the IRPs in vivo and that Pfn2 contributes to maintaining iron homeostasis in cell lines and mice

Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome

The ubiquitously expressed iron storage protein ferritin plays a central role in maintaining cellular iron homeostasis. Cytosolic ferritins are composed of heavy (H) and light (L) subunits that co-assemble into a hollow spherical shell with an internal cavity where iron is stored. The ferroxidase activity of the ferritin H chain is critical to store iron in its Fe3+ oxidation state, while the L chain shows iron nucleation properties. We describe a unique case of a 23-yr-old female patient affected by a homozygous loss of function mutation in the L-ferritin gene, idiopathic generalized seizures, and atypical restless leg syndrome (RLS). We show that L chain ferritin is undetectable in primary fibroblasts from the patient, and thus ferritin consists only of H chains. Increased iron incorporation into the FtH homopolymer leads to reduced cellular iron availability, diminished levels of cytosolic catalase, SOD1 protein levels, enhanced ROS production and higher levels of oxidized proteins. Importantly, key phenotypic features observed in fibroblasts are also mirrored in reprogrammed neurons from the patient's fibroblasts. Our results demonstrate for the first time the pathophysiological consequences of L-ferritin deficiency in a human and help to define the concept for a new disease entity hallmarked by idiopathic generalized seizure and atypical RLS