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Leber’s hereditary optic neuropathy (LHON) is a mitochondrial condition that gradually affects the central vision. In the current case report, we present 2 relatives with LHON due to a pathogenic variant within ND1 with a clinical phenotype resembling hypertrophic cardiomyopathy, including a short PQ-interval and hypertrophy on electrocardiogram as well as severe hypertrophy of the left ventricle on echocardiography. These findings highlight the importance of offering routine cardiac investigation to patients with LHON and their relatives carrying the ND1 variant to hopefully improve correct diagnosis and clinical management of LHON patients. Résumé: La neuropathie optique héréditaire de Leber (NOHL) est une maladie mitochondriale qui affecte graduellement la vision centrale. Dans l’observation clinique actuelle, nous présentons deux proches atteints de la NOHL due à un variant pathogène dans le ND1 associé à un phénotype clinique qui ressemble à une cardiomyopathie hypertrophique, notamment en raison d’un intervalle PQ court et d’une hypertrophie à l’électrocardiogramme, et d’une hypertrophie grave du ventricule gauche à l’échocardiographie. Ces conclusions illustrent l’importance de proposer des examens cardiaques systématiques aux patients atteints de NOHL et à leurs proches porteurs du variant ND1 pour, espérons-le, améliorer les diagnostics justes et la prise en charge clinique des patients atteints de la NOHL.

This paper studies the design of a mid-scale maritime supply chain for distribution of liquefied natural gas (LNG) from overseas sourcing locations, via a storage located at the coast, before transporting the LNG on land to industrial customers. The case company has signed contracts with a number of initial customers and expect that there will be more customers and increased demand in the years to come. However, it is currently uncertain whether and when new contracts will be signed. To capture this uncertainty with regard to which and how many future customers there will be, which directly affects the demand, we propose a multi-stage stochastic programming model, which maximizes the expected profits of the supply chain. The model aims at aiding decisions concerning the import of LNG, investments in floating storage units and customer distribution systems, and it has been applied on a real case study for distributing LNG to customers in a Brazilian state. It is shown that explicitly considering uncertainty in the modeling of this problem is very important, with a Value of Stochastic Solution of 13.2%, and that there are significant economies of scale in this supply chain. Most importantly, the multi-stage stochastic programming model and the analysis presented in this paper provided valuable decision support and managerial insights for the case company in its process of setting up the LNG supply chain.