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Resumen La calidad de la red de potencia se ha ido convirtiendo en un aspecto muy importante para medir la calidad del servicio eléctrico, lo que implica mayor interés en conocer las características de la red eléctrica y disponer de información acerca de incidencias posibilita analizar los eventos, perturbaciones que resaltan en el sistema eléctrico previniendo los efectos que las provocan. El presente documento analiza criterios para la evaluación del perfil de carga mediante la identificación de las firmas de consumo, realizando el estudio de cargas conectadas en un ambiente controlado, con el fin de proponer un procedimiento para la identificación de las misma, verificando el comportamiento de dichas cargas en una red eléctrica. Abstract The quality of the power grid has become a very important aspect to measure the quality of the electric service, which implies greater interest in knowing the characteristics of the network, also having information about incidents makes it possible to analyze events, disturbances that stand out in the electrical system preventing the effects they cause. This article analyzes criteria for the evaluation of the load profile through the identification of the consumption signatures, carrying out the study of connected loads in a controlled environment, in order to propose a procedure for the identification of it, verifying the behavior of loads in an electrical grid.

Werner’s syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma-like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48-year-old male patient, who presents with cardinal signs of WS including high-pitched voice, sclerotic skin lesions mainly on feet, premature greying of scalp hair, bilateral cataracts, and “bird-like” facial appearance. In addition, the patient presents other clinical characteristics observed in patients with WS such as short stature, type 2 diabetes mellitus, hypogonadism, parental consanguinity, and a history of a sibling with similar clinical characteristics. WRN gene sequencing identified the homozygous pathogenic variant NM_00553.4: c.2581C>T (NP_000544.2: pGln861Ter). This is the first case of WS reported in the Colombian population. We report this case to avoid misdiagnosis of this infrequent condition and allow timely identification of potential complications associated with premature aging, especially malignancies, cardiovascular and metabolic diseases.

Inefficient use of resources in biomedical technology and low quality in the provision of health services, support the need to implement a process of acquisition and renovation of biomedical technology such as that set out in this Article. It also includes the recommended procedures within this process, which are intended to be standards for all the Institutions that provide Health Services in Colombia. Resumen El uso ineficiente de los recursos en la tecnología biomédica y la baja calidad en la prestación de servicios de salud, apoyan la necesidad de implementar un proceso de adquisición y renovación de tecnología biomédica como el establecido en este artículo. También incluye los procedimientos recomendados dentro de este proceso, los cuales están destinados a ser estándares para todas las instituciones que proveen servicios de salud en Colombia. Resumo O uso ineficiente dos recursos da tecnologia biomédica e de baixa qualidade na prestação de serviços de saúde, apoiam a necessidade de implementar um processo de aquisição e renovação da tecnologia biomédica como a estabelecida neste artigo. Também inclui os procedimentos recomendados dentro deste processo, os quais estão destinados a ser padrão para todas as Instituições que proveem Serviços de Saúde na Colômbia.

Background Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available. Fabry disease, an X‐linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end‐stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non‐specificity of early symptoms. Newborn screening and screening of at‐risk populations, (e.g., patients with hypertrophic cardiomyopathy or undiagnosed nephropathies) can identify individuals with Fabry disease. Subsequent cascade genotyping of family members may disclose a greater number of affected individuals, often at younger age than they would have been diagnosed otherwise. Methods We conducted a literature search to identify all published data on family genetic testing for Fabry disease, and discussed these data, experts’ own experiences with family genetic testing, and the barriers to this type of screening that are present in their respective countries. Results There are potential barriers that make implementation of family genetic testing challenging in some countries. These include associated costs and low awareness of its importance, and cultural and societal issues. Regionally, there are barriers associated with population educational levels, national geography and infrastructures, and a lack of medical geneticists. Conclusion In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases., This review article discusses the literature published on family genetic testing for Fabry disease and the experiences of 19 Fabry experts from 15 countries regarding family screening in their countries and the barriers they are facing. Together, this literature overview and combined global experience provides valuable insights to medical geneticists working to improve the diagnosis of rare diseases within their countries and globally.