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Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Methods: Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. Results: From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22; 45.5%), and other five were compound heterozygous for this variant (15/22; 68.2%). The other mutations found were p.Q128X (c.721 C>T; of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.

The authors' objective is to review the clinical condition -Ganser Syndrome -based on three clinical cases observed in 2018 in a Portuguese public hospital.

Urban flooding occurrence has significant impacts and negative effects that require an adequate assessment, taking into consideration the different consequences associated with them. This study proposes a methodology based on the development and use of a 1D/2D integrated mathematical modelling and subsequent application of the technical performance assessment to support the flood management in estuarine margins. The 1D/2D integrated modelling is developed using the combination of Mike Urban and Mike Flood software through the application of the Overland Flow tool. The performance assessment in stormwater systems is based on the application of performance indicators (PIs) using the information provided by 1D and 1D/2D integrated modelling. The set of PIs includes a part from the system of the IWA for wastewater services, those that are applicable to flooding management of stormwater systems; another part corresponds to some new PIs proposed, based on the modelling capabilities (1D and 1D/2D). The advantages and disadvantages of the use of information obtained from 1D/2D modelling in comparison to 1D modelling is also analysed. The methodology was tested and validated for the Dafundo case study, where the risk of flooding occurrence is focused on the downtown catchment area.

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