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Two recent theoretical studies [C. Liu et al., Phys. Rev. A 64, 010501 (2001); M. Zitnik et al., ibid. 65, 032520 (2002)] predict that the fluorescence lifetimes of helium doubly excited states converging to He+ N = 2 should be longer than that of the He+ 2p ion state. This effect is caused by the electric field of the outer electron which, through Stark mixing, gives the inner fluorescing electron some series specific, stabilizing 2s character. We have obtained the first experimental evidence that confirms this effect by measuring the lifetime of the 2p3d(P-1(0)) doubly excited state. This was determined to be 190 +/- 30 ps compared to 100 ps for the He+ 2p ion state. The measurements were performed using short pulses of synchrotron radiation to form doubly excited states and recording the arrival time of photons from fluorescence.

The Low Density Matter (LDM) beamline has been built as part of the FERMI free-electron laser (FEL) facility to serve the atomic, molecular and cluster physics community. After the commissioning phase, it received the first external users at the end of 2012. The design and characterization of the LDM photon transport system is described, detailing the optical components of the beamline.

Lateral meningocele syndrome (LMS) is due to specific pathogenic variants in the last exon of NOTCH3 gene. Besides the lateral meningoceles, this condition presents with dysmorphic features, short stature, congenital heart defects, and feeding difficulties. Here, we report a girl with neurosensorial hearing loss, severe gastroesophageal reflux disease, congenital heart defects, multiple renal cysts, kyphosis and left‐convex scoliosis, dysmorphic features, and mild developmental delay. Exome sequencing detected the previously unreported de novo loss‐of‐function variant in exon 33 of NOTCH3 p.(Lys2137fs). Following the identification of the gene defect, MRI of the brain and spine revealed temporal encephaloceles, inner ears anomalies, multiple spinal lateral meningoceles, and intra‐ and extra‐dural arachnoid spinal cysts. This case illustrates the power of reverse phenotyping to establish clinical diagnosis and expands the spectrum of clinical manifestations related to LMS to include inner ear abnormalities and multi‐cystic kidney disease.

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Multiple Sulfatase Deficiency (MSD) is an inborn error of metabolism caused by pathogenic variants in the SUMF1 gene encoding the formylglycine-generating enzyme (FGE) that activates all known sulfatases. FGE deficiency results in widespread tissue accumulation of multiple sulphated substrates. Through a systematic analysis of published cases, we retrieved 80 MSD cases and reviewed the disease clinical, biochemical, and genetic findings. Leukodystrophy, neurosensorial hearing loss, and ichthyosis were the most frequent findings at diagnosis. Of 51 reported pathogenic variants, 20 were likely gene disruptive and the remaining were missense variants. No correlations between class of variants and clinical severity or degree of enzyme deficiency were detected. However, cases harboring variants located at N-terminal always had severe neonatal presentations. Moreover, cases with neonatal onset showed the lowest overall survival rate compared to late-infantile and juvenile onsets. Using GnomAD, carrier frequency for pathogenic SUMF1 variants was estimated to be ~1/700 and the disease prevalence was approximately 1/2,000,000. In summary, MSD is an ultra-rare multisystem disorder with mainly neurologic, hearing and skin involvements. Although the collected data were retrospective and heterogenous, the quantitative data inform the disease natural history and are important for both counseling and design of future interventional studies.

Background: Postoperative Pancreatic Fistula (POPF) development remains a challenge after pancreaticoduodenectomy, occurring in 3–45% of cases [1]. The placement of a trans-anastomotic Wirsung stent is usually done in high-risk patients to decrease incidence and severity of POPF. Methods: Herein, we present a fully robotic pancreaticoduodenectomy with a biodegradable ductal stent interposition in a 47 y.o. female with a main duct IPMN of the pancreatic head and a fistula risk score of 6 (Moderate-risk). Video: After gastrocolic ligament division and hepatic flexure and duodenum mobilization, the loco-regional lymphadenectomy was performed. Following gastric transection with endo-GIA, the bile duct and gastroduodenal artery have been divided, and the cholecystectomy performed. The neck of the pancreas has been transected, the jejunum divided with endo-GIA and mobilized from the Treitz ligament, and the uncinate process dissected from the mesenteric vessels. A Blumgart anastomosis has been performed between the soft-texture pancreatic stump and the jejunal loop with the interposition of a 6 Fr/60 mm long, medium degrading stent (20 days) in the 2 mm duct (Archimedes BPS®, AMG Int., Winsen-Germany). The hepatico-jejunostomy and gastro-jejunostomy have been performed distally on the same loop. Three abdominal drains have been positioned. Results: Surgery lasted 480 min, with 175 mls blood loss. The patient postoperatively developed a biochemical leak and was discharged home by day 12. She was readmitted a month later for an amylase-negative intra-abdominal abscess that was successfully treated with percutaneous drainage. Conclusion: Biodegradable pancreatic stent positioning could be an effective strategy in reducing POPF occurrence in high-risk patients.

We made use of synchrotron radiation to perform near edge X-ray absorption fine structure spectroscopy, NEXAFS, at the carbon K-edge of perylene and perylene-tetracarboxylic-diimide, PTCDI. Reference spectra measured for isolated molecules in the gas phase are compared with polarization dependent NEXAFS spectra measured on highly oriented thin films in order to study the symmetry of the molecular orbitals. The molecular overlayers are grown onto the rutile TiO2(110) surface for which the large anisotropic corrugation effectively drives the molecular orientation, while its dielectric nature prevents the rehybridization of the molecular orbitals. We employed density functional theory, DFT, calculations to disentangle the contribution of specific carbon atoms to the molecular density of states. Numerical simulations correctly predict the observed NEXAFS azimuthal dichroism of the σ* resonances above the ionization threshold, from which we determine the full geometric orientation of the overlayer molecules. A discrepancy observed for the spectral contribution of the imide carbon atom to the calculated unoccupied molecular orbitals has been explained in terms of initial state effects, as determined by Hartree-Fock corrections and in full agreement with the corresponding shift of the C 1s core level measured by X-ray photoelectron spectroscopy, XPS. © the Partner Organisations 2014.

We have measured the NEXAFS spectrum and the relative photoionization cross section of the 3d spin - orbit components of the barium atom in the energy range up to 50 eV above the ionization threshold. As in Xe and Cs, also in barium the two spin - orbit components show strongly different energy dependence. A strong enhancement of the 3d(5/2) cross section near the 3d(3/2) ionization threshold, which is attributed to interchannel coupling, is observed. The experimental results are in good agreement with the relativistic time- dependent density functional theory calculations.