Axons contain a smooth tubular endoplasmic reticulum (ER) network that is thought to be continuous with ER throughout the neuron; the mechanisms that form this axonal network are unknown. Mutations affecting reticulon or REEP proteins, with intramembrane hairpin domains that model ER membranes, cause an axon degenerative disease, hereditary spastic paraplegia (HSP). We show that Drosophila axons have a dynamic axonal ER network, which these proteins help to model. Loss of HSP hairpin proteins causes ER sheet expansion, partial loss of ER from distal motor axons, and occasional discontinuities in axonal ER. Ultrastructural analysis reveals an extensive ER network in axons, which shows larger and fewer tubules in larvae that lack reticulon and REEP proteins, consistent with loss of membrane curvature. Therefore HSP hairpin-containing proteins are required for shaping and continuity of axonal ER, thus suggesting roles for ER modeling in axon maintenance and function.DOI: http://dx.doi.org/10.7554/eLife.23882.001

This paper is a narrative review of extraaxial developmental venous anomalies (eDVAs) of the brain involving dural venous flow or sinuses: persistent embryonic sinuses, sinus pericranii, enlarged emissary veins, and venous varices or aneurysmal malformations. The article highlights the natural history, anatomy, embryology, imaging, clinical implications, and neurosurgical significance of these lesions, which the authors believe represent a continuum, with different entities characterized by distinct embryopathologic features. The indications and surgical management options are discussed for these individual intracranial pathologies with relevant illustrations, and a novel classification is proposed for persistent falcine sinus (PFS). The role of neurointervention and/or microsurgery in specific cases such as sinus pericranii and enlarged emissary veins of the skull is highlighted.A better understanding of the pathophysiology and developmental anatomy of these lesions can reduce treatment morbidity and mortality. Some patients, including those with vein of Galen malformations (VOGMs), can present with the added systemic morbidity of a high-output cardiac failure. Although VOGM is the most studied and classified of the above-mentioned eDVAs, the authors believe that grouping the former with the other venous anomalies/abnormalities listed above would enable the clinician to convey the exact morphophysiological configuration of these lesions, predict their natural history with respect to evolving venous hypertension or stroke, and extrapolate invaluable insights from VOGM treatment to the treatment of other eDVAs. In recent years, many of these symptomatic venous malformations have been treated with endovascular interventions, although these techniques are still being refined. The authors highlight the broad concept of eDVAs and hope that this work will serve as a basis for future studies investigating the role of evolving focal venous hypertension/global intracranial hypertension and possibilities of fetal surgical intervention in these cases.

Teratomas including dermoid cysts occur in approximately 1:4000 births with the incidence in the head and neck varying according to different authors between 1.6 and 6.9 per cent.The case presented is of a 28-year-old Caucasian male in whom a dermoid cyst occurred in the floor of the mouth where ultrasound was found useful in the pre-operative assessment.The role of ultrasound in the pre-operative management of lesions in the head and neck is discussed.

Abstract:Axons contain an endoplasmic reticulum (ER) network that is largely smooth and tubular, thought to be continuous with ER throughout the neuron, and distinct in form and function from rough ER; the mechanisms that form this continuous network in axons are not well understood. Mutations affecting proteins of the reticulon or REEP families, which contain intramembrane hairpin domains that can model ER membranes, cause an axon degenerative disease, hereditary spastic paraplegia (HSP). Here, we show that these proteins are required for modeling the axonal ER network in Drosophila. Loss of reticulon or REEP proteins can lead to expansion of ER sheets, and to partial loss of ER from distal motor axons. Ultrastructural analysis reveals an extensive ER network in every axon of peripheral nerves, which is reduced in larvae that lack reticulon and REEP proteins, with defects including larger and fewer tubules, and occasional gaps in the ER network, consistent with loss of membrane curvature.Therefore HSP hairpin-containing proteins are required for shaping and continuity of the axonal ER network, suggesting an important role for ER modeling in axon maintenance and function.

sperm collected from cauda epididymis (C57BL6 inbred and B6D2F1 outbred) for 4-6h. Zygotes were cultured either in suboptimal Whitten's medium and 20% O2 (IVFWM) or in optimal KSOM medium with amino acids and 5% O2 (IVFKAA) for 96h in 37 C. Control blastocysts were flushed from the uterus of mated mice (FB mice). Blastocysts were transferred to pseudo-pregnant recipients. Pups were reared to adulthood and peripheral tissues were collected and serum corticosterone levels measured. Total RNA and protein were isolated from fat, muscle and liver. mRNA expression of GR and a selected group of GR-downstream target genes were analyzed by qPCR; GR protein level by Western Blot. One-way AN-OVA with post hoc correction was used as appropriate; p<0.05 was considered significant.RESULTS: Serum corticosterone levels were not different. Increased GR expression was observed in blastocysts conceived by IVF, being higher in the group using suboptimal conditions (IVFWM) in both strains. Interestingly, fat tissue of both inbred and outbred males exhibited a 2-fold increase in the expression of GR mRNA and protein. Instead, females did not exhibit any changes in GR levels in all the tissues tested. Finally, known downstream targets of GR were upregulated in the fat tissue of male mice.CONCLUSIONS: Male mice conceived by IVF have higher GR levels and GR-target genes expression in fat tissues. Importantly, these findings indicate that memory of the preimplantation environment is maintained in adulthood in a tissue and sex specific manner. The metabolic implications of these findings are discussed. Concurrent studies are further evaluating epigenetic changes at the GR promoter.