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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 3d5/2 cross section near the 3d3/2 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. [ABSTRACT FROM AUTHOR]

This paper reports a study by ion and electron spectroscopy of two-photon excited resonances of Cs and Rb at the 4d and 3d edges, respectively. The experimental spectra were simulated using multiconfiguration Dirac-Fock calculations. The excitation spectrum of laser-excited Cs atoms is predicted by single configuration calculations whereas a large set of correlated configurations is needed for proper description of the core-excitation of laser-excited Rb atoms. [ABSTRACT FROM AUTHOR]

Background: Newborn screening (NBS) programs have significantly improved the health and outcomes of patients with inherited metabolic disorders (IMDs). Methods based on liquid chromatography/mass spectrometry (LC-MS/MS) analysis are viewed worldwide as the gold standard procedure for the expanded NBS programs for these disorders. Advanced molecular technologies point to genomic sequencing as an alternative and feasible strategy for the screening of genetic diseases, including IMDs. However, each of the two approaches has potential limitations when used as a first-tier analysis. In this study, we tested a workflow-based parallel biochemical and sequencing analyses to determine whether this approach could improve the diagnostic outcome., Results: For each patient identified by LC-MS/MS as positive, we performed both the biochemical confirmatory tests and next-generation sequencing (NGS) procedures from the same Dried Blood Spot (DBS). NGS analysis was based on applying Exome Sequencing libraries, limiting the analysis to 105 actionable genes involved in IMDs. This allows overtaking the actual limitations of NBS on DBS, enhancing our capacity to identify variants that can drive a genetic disease. Through this approach, we could reach 100% of cases solved, with 37.9% of cases (41/108) for which the combination of the biochemical and NGS analysis was indispensable for a correct diagnosis. In total, we could identify 17 affected, 34 false positives, 12 individuals referred to us for maternal conditions. In 45 newborns the molecular analysis showed heterozygosity for mutations in one or more of the genes analyzed, with results compatible with the biochemical profile indicative of NBS positivity., Conclusions: In this study, we validated the performance of the proposed workflow. The advantage of this approach is limiting molecular analysis only to positive newborns and using a restricted panel of 105 genes relevant for the expanded NBS, with a 100% rate of diagnosis and potential reduction of the costs related to NBS procedures and reduced impact on patients and families., Competing Interests: Declarations. Ethics approval and consent to participate: NBS for both biochemistry and genetics was performed according the Italian national law 167/2016 [9] Ethics approval from the local ethical committee (Campania 3) was also obtained: GENOMED study (nr. 3/2023). The research conformed to the principle of the Helsinki Declaration. Consent for publication: Not applicable. Competing interests: Davide Cacchiarelli is the founder, shareholder, and consultant of NEGEDIA Srl. Sara Riccardo, Patrizia Annunziata, and Chiara Colantuono are employees of NEGEDIA Srl. The other authors declare that they have no competing interests., (© 2025. The Author(s).)

Background: The outcomes of minimally invasive liver surgery for posterosuperior segments (PS) are still debated. Since the results of ongoing trials focusing on the results of laparoscopic liver resection (LLR) and robotic liver resection (RLR) in this setting are still awaited, the best evidence currently comes from retrospective propensity-score matched (PSM) studies. The aim of this meta-analysis was to assess the outcomes of RLR for difficult located lesions and to provide evidence for its use in clinical practice., Methods: A systematic review with meta-analysis was conducted to evaluate the safety and efficacy of LLR and RLR for PS segments. The Medline, Embase and Web of Science Library electronic databases were searched to identify available research published up to June 2024., Results: Five studies with a total of 2907 patients (RLR: n = 1084; LLR: n = 1823) were included in the meta-analysis. The RLR group had less estimated blood loss (EBL) (MD: - 88.3, 95% CI - 144.2-- 32.3; p = 0.012), fewer blood transfusions (OR 0.70, 95% CI 0.39-0.80, p = 0.033), and a shorter operative time (MD - 27.3, 95% CI - 49.4-- 5.1; p = 0.027). No differences in postoperative morbidity, mortality and R1 resection rates were observed., Conclusion: RLR for lesions in the PS segments are safe and effective, and may have superior surgical outcomes than LLR., Competing Interests: Declarations. Disclosures: Fabio Giannone, Gianluca Cassese, Celeste Del Basso, Mariantonietta Alagia, Marco Palucci, Federico Sangiuolo, Fabrizio Panaro have no conflict of interest to disclose., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

There is a growing need to find novel, sustainable solutions for elastomer reinforcement. Many biomass polymers have been used for this purpose, including cellulose, starch, lignin and protein. Among these, proteins are an under-explored solution, although they are promising materials due to their abundance in agricultural and animal by-products and the multifunctional properties they can impart to composites. Proteins are naturally occurring components of Hevea Brasiliensis natural rubber, where many of its peculiar properties have been attributed to these biopolymers, such as strain-induced crystallization, improved resistance to thermo-oxidative aging and vulcanization accelerating effects. The production of 'artificial' rubber/protein composites using these biopolymers offers other advantages such as low cost, lightweight, biodegradability and high availability. This review focuses on wheat gluten, corn zein, keratin and collagen. The incorporation of such materials into elastomeric matrices is challenging due to their hydrophilicity; therefore, dispersion and interfacial adhesion need to be improved to obtain composites with improved properties. In this sense, several strategies have been addressed in the literature to solve this problem, including rubber and/or protein functionalization and different compounding techniques. The aim of this review is to describe and compare these strategies in order to provide a toolbox for optimal composite fabrication., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Background: Newborn screening (NBS) is a simple, non-invasive test that allows for the early identification of genetic diseases within the first days of a newborn's life. The aim of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible, before the onset of disease symptoms. Early diagnosis enables timely treatments and improves the quality of life for affected patients., Results: A pilot project for dried blood spot (DBS) NBS of lysosomal storage diseases (LSDs), including Mucopolysaccharidosis I (MPSI, IDUA α-L-iduronidase deficiency), Pompe disease (GAA α-glucosidase acid deficiency), Gaucher disease (GBA β-glucosidase deficiency) and Fabry disease (GLA α-galactosidase deficiency), was conducted using the digital microfluidic (DMF) technique. DBS were analyzed in a multiplexed assays for the enzymatic activities of four lysosomal enzymes (IDUA, GAA, GBA, GLA), and subjects identified as deficient in any of these enzymes were referred to the clinical reference center for diagnosis confirmation. From June 6th, 2022, to May 12th, 2023, a total of 7650 newborns were analyzed and 1 subject affected by Pompe disease was identified together with two additional subjects, suspected of Pompe and Fabry disease respectively, for whom continued follow-up is mandatory to determine the phenotype., Conclusions: The pilot project for DBS NBS of four LSDs in Campania Region validated the effectiveness of DMF method, established enzymatic activity cut-offs, and identified newborns referred to the clinical center for integrated diagnostics, including genetic analyses. The results suggest that this technique can effectively detect potentially affected newborns, who will require further diagnostic confirmation and clinical follow-up. This diagnostic flow chart provides the opportunity to initiate early treatments and improve LSD patients' life span., Competing Interests: Declaration of competing interest The authors declare that they have no competing interests., (Copyright © 2024. Published by Elsevier Inc.)

Robotic liver surgery is experiencing a period of great development, but some hurdles still need to be overcome. Parenchymal transection remains one of the most technically challenging steps. The lack of dedicated instruments and the flourishing of several techniques didn't allow surgeons to reach a standard technique so far. The aim of the present paper is to provide an overview of the different robotic liver transection techniques described to date, highlighting the strengths and weaknesses of each one. We conducted an extensive search on PubMed, Scopus and Web of Science, inserting the following keywords: "robotic liver transection, robotic hepatic transection" and focusing particularly on technical reports and paper regarding new surgical methods. This search resulted in a total of 13 different surgical techniques. All the methods described can be classified into two categories the "hybrid techniques" and the "fully robotic techniques" which are based, respectively, on the combined use of laparoscopic and robotic instrumentation or exclusively robotic devices. Another fundamental difference is the division between "one-surgeon" and "two-surgeon techniques", which depends on the level of expertise required of the assistant surgeon at the operating table. This is the first comprehensive review on this topic. Although the existing literature does not allow one technique to be established as superior to the others, the adoption of a standardized method of robotic hepatic transection is highly desirable to optimize surgical results and to allow better comparability of outcomes within the scientific community., Competing Interests: Declarations. Conflict of interest: The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag London Ltd., part of Springer Nature.)

Background and Objectives : Resection of the caudate lobe of the liver is considered a highly challenging surgical procedure due to the deep anatomic location of this segment and the relationships with major vessels. There is no clear evidence about the safety and effectiveness of robotic resection of the caudate lobe. The aim of this systematic review was to report data about the safety, technical feasibility, and postoperative outcomes of robotic caudate lobectomy. Materials and Methods : A systematic review of the MEDLINE and SCOPUS databases was undertaken, including studies published until 19 December 2024. Results : A total of 5 studies including 110 patients were selected. Of these surgeries, 56.3% were performed for malignant tumors. Tumor size varied significantly between 0.9 and 7.7 cm in the largest diameter. The mean operative time was 184.5 min (range 70-522 min), and the estimated blood loss was 95.5 mL (range 10-1500 mL). The median hospital length of stay was 4.2 days (range 2-19 days) and no cases of conversion to open were reported. All the patients underwent R0 resection. In total, 24 out of 110 patients (21.8%) developed postoperative complications, with 1.8% of all patients developing a major complication (Clavien-Dindo classification ≥ III). No perioperative deaths were reported by the included studies. Conclusions : Few retrospective studies investigating the outcomes of robotic resection of the caudate lobe are currently available in the literature. From published data, it may be a safe and feasible alternative to open and laparoscopic caudate lobectomy in selected patients in referral HPB centers. Further studies with larger sample sizes are needed to confirm such preliminary findings.

Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Pompe disease, a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase. The CPR document was developed within the activities of the MetabERN, a non-profit European Reference Network for Metabolic Diseases established by the European Union. A working group was selected among members of the MetabERN lysosomal storage disease subnetwork, with specific expertise in the care of Pompe disease, and patient support group representatives. The working strategy was based on a systematic literature search to develop a database, followed by quality assessment of the studies selected from the literature, and by the development of the CPR document according to a matrix provided by MetabERN. Quality assessment of the literature and collection of citations was conducted according to the AGREE II criteria and Grading of Recommendations, Assessment, Development and Evaluation methodology. General aspects were addressed in the document, including pathophysiology, genetics, frequency, classification, manifestations and clinical approach, laboratory diagnosis and multidisciplinary evaluation, therapy and supportive measures, follow-up, monitoring, and pregnancy. The CPR document that was developed was intended to be a concise and easy-to-use tool for standardization of care for patients among the healthcare providers that are members of the network or are involved in the care for Pompe disease patients., (© 2024. The Author(s).)

We report the x-ray absorption spectrum (XAS) of the tert-butyl radical, C4H9. The radical was generated pyrolytically from azo-tert-butane, and the XAS of the pure radical was obtained by subtraction of spectra recorded at different temperatures. The bands in the XAS were assigned by ab initio calculations that are in very good agreement with the experimental data. The lowest energy signal in the XAS is assigned to the C1s electron transition from the central carbon atom to the singly occupied molecular orbital (SOMO), while higher transitions correspond to C1s excitations from terminal carbon atoms. Furthermore, we investigated the fragmentation of the radical following resonant C1s excitation by electron-ion-coincidence spectroscopy. Several fragmentation channels were identified. The C1s excitation of the terminal carbons is associated with a stronger fragmentation tendency compared to the lowest C1s excitation of the central carbon into the SOMO. For this core excited state, we still observe an intact parent ion, C4H9+, and a comparatively higher tendency to dissociate into CH3+ + C3H6+., (© 2024 Author(s). Published under an exclusive license by AIP Publishing.)

The behavior of nitrosyl chloride (ClNO) exposed to ionizing radiation was studied by direct probing valence-shell electrons in temporal coincidence with ions originating from the fragmentation process of the transient ClNO 2+ . Such a molecular dication was produced by double photoionization with synchrotron radiation in the 24-70 eV photon energy range. The experiment has been conducted at the Elettra Synchrotron Facility of Basovizza (Trieste, Italy) using a light beam linearly polarized with the direction of the polarization vector parallel to the ClNO molecular beam axis. ClNO molecules crossing the photon beam at right angles in the scattering region are generated by effusive expansion and randomly oriented. The threshold energy for the double ionization of ClNO (30.1 ± 0.1 eV) and six dissociation channels producing NO + /Cl + , N + /Cl + , N + /O + , O + /Cl + , ClN + /O + , NO + /Cl 2+ ion pairs, with their relative abundance and threshold energies, have been measured.

Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop neurological disorders and premature vascular disease. Timely diagnosis through NBS allows early treatment, resulting in improved outcomes., Methods: we report the diagnostic yield of genetic testing for MTHFR deficiency diagnosis, in a reference Centre of Southern Italy between 2017 and 2022. MTHFR deficiency was suspected in four newborns showing hypomethioninemia and hyperhomocysteinemia; otherwise, one patient born in pre-screening era showed clinical symptoms and laboratory signs that prompted to perform genetic testing for MTHFR deficiency., Results: molecular analysis of the MTHFR gene revealed a genotype compatible with MTHFR deficiency in two NBS-positive newborns and in the symptomatic patient. This allowed for promptly beginning the adequate metabolic therapy., Conclusions: our results strongly support the need for genetic testing to quickly support the definitive diagnosis of MTHFR deficiency and start therapy. Furthermore, our study extends knowledge of the molecular epidemiology of MTHFR deficiency by identifying a novel mutation in the MTHFR gene.

The potential for selective bond breaking of a small molecule was investigated with electron spectroscopy and electron-ion coincidence experiments on ClNO. The electron spectra were measured upon direct valence photoionization and resonant core excitation at the N 1s- and O 1s-edges, followed by the emission of resonant-Auger (RA) electrons. The RA spectra were analyzed with particular emphasis on the assignment of the participator and spectator states. The states are of special relevance for investigating how distinct electronic configurations influence selective bond breaking. The electron-ion coincidence measurements provided branching fractions of the produced ion fragments as a function of electron binding energy. They explicitly demonstrate how the final electronic states created after photoionization and RA decay influence fragmentation. In particular, we observed a significantly different branching fraction for spectator states compared with participator states. In addition, it was also observed that the bonds broken for the spectator states correlate with the antibonding nature of the spectator-electron orbital.

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., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

The cause of hepatic portal vein gas (HPVG) is variable. Good knowledge of the possible causes, combined with the clinical assessment of the patient and a good quality imaging, is required to correctly identify the underlying cause of HPVG and to best predict the prognosis., Competing Interests: None declared., (© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

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., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Interstitial deletions of 16q chromosome including 16q12.1q21 region are very rare, with only three cases reported to date. Main clinical features include dysmorphisms, short stature, microcephaly, eye abnormalities, epilepsy, development delay, intellectual disability, and autism spectrum disorder. We report two independent subjects with 16q12.1q21 deletion syndrome presenting with dysmorphic facial features, developmental delay, strabismus, and aggressive behavior. A minimal region of overlap spanning 1.7 Mb on chromosome 16, including IRX5, GNAO1, and NUDT21 genes was shared among these two cases and those previously reported. This minimal region of overlap suggests the potential pathogenic role of these genes, previously implicated in diseases of the central nervous system., Competing Interests: Declaration of competing interest The authors declare no conflicts of interest and they received no primary funding for this research., (Copyright © 2020 Elsevier Masson SAS. All rights reserved.)

The photoionization dynamics of OsO 4 and RuO 4 , chosen as model systems of small-size mononuclear heavy-metal complexes, has been theoretically studied by the time-dependent density functional theory (TDDFT). Accurate experimental measurements of photoionization dynamics as a benchmarking test for the theory are reported for the photoelectron asymmetry parameters of outer valence ionizations of OsO 4 , measured in the 17-90 eV photon energy range. The theoretical results are in good agreement with the available experimental data. The observed dynamical behavior of partial cross sections and asymmetry parameters has been related to both the coupling to the continuum of discrete excited states, giving strong modulations in the photon energy dependency, and the atomic composition of the initial ionized states, which determines the rate of decay of ionization probability for increasing excitation energies. Overall, an extensive analysis of the photoionization dynamics for valence and core orbitals is presented, showing good agreement with all the available experimental data. This provides confidence for the validity of the TDDFT approach in describing photoionization of heavy transition element compounds, with the perspective of being used for larger systems. Further experimental work is suggested for RuO 4 to gather evidence of the sensitivity of the theoretical method to the nature of the metal atom.

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., (© 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.)