Assessing opportunities and weaknesses of green hydrogen transport via LOHC through a detailed techno-economic analysis

In the transition towards a more sustainable energy system, hydrogen is seen as the key low-emission energy source. However, the limited H2 volumetric density hinders its transportation. To overcome this issue, liquid organic hydrogen carriers (LOHCs), molecules that can be hydrogenated and, upon arrival, dehydrogenated for H2 release, have been proposed as hydrogen transport media. Considering toluene and dibenzyltoluene as representative carriers, this work offers a systematic methodology for the analysis and the comparison of LOHCs, in view of identifying cost-drivers of the overall value-chain. A detailed Aspen Plus process simulation is provided for hydrogenation and dehydrogenation sections. Simulation results are used as input data for the economic assessment. The process economics reveals that dehydrogenation is the most impactful cost-item, together with the carrier initial loading, the latter related to the LOHC transport distance. The choice of the most suitable molecule as H2 carrier, ultimately, is a trade-off between its hydrogenation enthalpy and cost.(c) 2023 The Author(s). Published by Elsevier Ltd on behalf of Hydrogen Energy Publications LLC. This is an open access article under the CC BY license (http://creativecommons.org/ licenses/by/4.0/)

Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I

Neurofibromatosis type I, a genetic disorder due to mutations in the NF1 gene, is characterized by a high mutation rate (about 50% of the cases are de novo) but, with the exception of whole gene deletions associated with a more severe phenotype, no specific hotspots and few solid genotype/phenotype correlations. After retrospectively re-evaluating all NF1 gene variants found in the diagnostic activity, we studied 108 patients affected by neurofibromatosis type I who harbored mutations that had not been previously reported in the international databases, with the aim of analyzing their type and distribution along the gene and of correlating them with the phenotypic features of the affected patients. Out of the 108 previously unreported variants, 14 were inherited by one of the affected parents and 94 were de novo. Twenty-nine (26.9%) mutations were of uncertain significance, whereas 79 (73.2%) were predicted as pathogenic or probably pathogenic. No differential distribution in the exons or in the protein domains was observed and no statistically significant genotype/phenotype correlation was found, confirming previous evidences

The effect of carriers’ reproductive choices and pregnancy history on sporadic severe haemophilia: A 20-year retrospective study through a regional registry

Introduction: Haemophilias are X-linked inherited bleeding disorders, due to de novo F8/F9 gene variants in 30–50% of cases. The identification of causative variant in index cases (IC) is crucial for genetic counselling in related women. Over the last 20 years the Emilia-Romagna Regional Haemophilia Registry documented high proportions of sporadic severe haemophilia. Aim: To clarify if carriers’ reproductive choices influence the sporadic/familial ratio of severe haemophilia. Methods: Genetic counselling and genotyping in 221 relatives of severe IC were retrospectively reviewed, retrieving reproductive choices and pregnancy history of childbearing-age carriers from familial and sporadic pedigrees and according to the IC degree of relationship (mothers, daughters, II/other). Results: Carriers’ identification rates were lower in sporadic women and in other-degree relatives. Among childbearing age women (n = 140), carriers were 37/48 (77%) and 57/92 (62%) of familial and sporadic relatives, respectively. Forty-five/57 sporadic carriers experienced 67 pregnancies, while 21/37 familial carriers had 39 pregnancies (four voluntary terminations), with a significantly higher number of affected sons in the former (40/67 vs. 12/35, P =.025). Prenatal diagnosis was chosen by 40% and 47% of sporadic and familial aware carriers, respectively. Sporadic mothers often avoided further pregnancies (17/38, 45%) after a firstborn affected child, while familial mothers tended to face pregnancies without prenatal approaches (6/10, 60%). Conclusion: In this cohort sporadic offspring account for more than 70% of severe haemophilia cases. This increasing proportion is likely to reflect the influence in reproductive choices of awareness of carriers’ status, particularly in sporadic mothers, and of prenatal diagnosis options