The scientific community strongly recommends the adoption of indicators for the evaluation and monitoring of progress towards sustainable development. Furthermore, international organizations consider that indicators are powerful decision-making tools. Nevertheless, the quality and reliability of the indicators depends on the application of adequate and appropriate criteria to assess them. The general objective of this study was to evaluate how indicators related to water use and management perform against a set of sustainability criteria. Our research identified 170 indicators related to water use and management. These indicators were assessed by an international panel of experts that evaluated whether they fulfil the four sustainability criteria: social, economic, environmental, and institutional. We employed an evaluation matrix that classified all indicators according to the DPSIR (Driving Forces, Pressures, States, Impacts and Responses) framework. A pilot study served to test and approve the research methodology before carrying out the full implementation. The findings of the study show that 24 indicators comply with the majority of the sustainability criteria; 59 indicators are bi-dimensional (meaning that they comply with two sustainability criteria); 86 are one-dimensional indicators (fulfilling just one of the four sustainability criteria) and one indicator do not fulfil any of the sustainability criteria.
Patient: Male, 14Final Diagnosis: Lysosomal acid lipase deficiency (LAL-D)Symptoms: Dyslipidemia • isolated hepatomegalyMedication: —Clinical Procedure: Genetic sequencingSpecialty: Gastroenterology and HepatologyObjective:Rare diseaseBackground:Lysosomal acid lipase deficiency is a rare genetic metabolic lipid storage disease, with a high morbidity, and mortality, in children and adults. It is characterized by a mutation in the LIPA gene that causes an alteration of lipid metabolism, resulting in deposits of cholesterol esters and triglycerides in organs such as the liver, blood vessels, and gastrointestinal tract. Lysosomal acid lipase deficiency is predominantly caused by the mutation c.894G>A, seen in approximately 50–70% of patients. Our objective is to report the first pediatric case of lysosomal acid lipase deficiency in a pediatric patient in Colombia.Case Report:The patient is a 14-year-old boy with isolated hepatomegaly since 6 years of age without a family history of dyslipidemia. In the pediatric control, laboratory exams revealed dyslipidemia, and a hepatic biopsy was performed, revealing severe fibrosis with septation and grade 3 microvesicular steatosis (>75%). He was referred to our center and was suspected to have lysosomal acid lipase deficiency. Enzymatic activity was measured, showing absent activity. Confirmatory diagnosis with genetic sequencing showed a pathological homozygous mutation of c.894G>A.Conclusions:Lysosomal acid lipase deficiency can manifest as early- or late-onset, with variable and severe signs and symptoms. The late-onset form has a broad spectrum of manifestations with mild symptoms, leading to under-diagnosis, which increases the actual disease burden. Early diagnosis is essential to initiate enzyme replacement therapy, since the natural disease course can be changed. More studies should be conducted in Latin America to evaluate the prevalence of the disease.
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