Search

Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible, improving quality of life and survival. This study describes the clinical characteristics as well as response to treatment with cerliponase alfa. Materials and Methods: A retrospective study was conducted in five Latin-American countries, based on clinical records from patients with CLN2. Clinical follow-up and treatment variables are described. A descriptive and bivariate statistical analysis was performed. Results: A total of 36 patients are reported with a mean age of symptom onset and time to first specialized consultation of 4.7±2.3 and 6±3.1 years, respectively. Seizures were the predominant symptom (80.6%). In a subgroup analysis, most patients with the classic phenotype exhibited regression in language (90%), while the patients with the atypical phenotype had seizures as the predominant symptom (87%). The mean age of symptom onset and time to first specialized consultation was 3.5±2.0 and 4.9±3.2 years, respectively, in patients with the classic phenotype and 6.2±1.8 and 7.5±2.4 in patients with the atypical phenotype. The mean time interval between onset of symptoms and treatment initiation was 3.8 years in patients with classic phenotype and 7.4 in patients with atypical phenotype. All patients were treated with cerliponase alfa, maintaining overall functional stability as compared to pretreatment values. Discussion and conclusion: This study reports at this time the largest number of patients with CLN2 in treatment with cerliponase alfa in the world. Data show a higher frequency of patients with atypical phenotype and a high allelic proportion of intron variants in our region. There was evidence of long intervals until first specialized consultation, diagnosis, and enzyme replacement therapy. Follow-up after the initiation of cerliponase alfa showed slower-to-no-progression of the disease, associated with adequate clinical outcomes and stable functional scores. These improvements were consistent in both clinical phenotypes.

Sectorization is a process aimed at efficiently managing Water Supply Networks (WSNs). There are many large WSNs where the number of sectors into which they might be subdivided is initially unknown. Our method uses concepts derived from the Social Network Theory (SNT) such as centrality and community detection to obtain such subdivisions. The output is then evaluated through energy criteria. This methodology entails two very important benefits over other methods previously proposed. Firstly, it is applicable to WSNs depending on a network trunk and, secondly, it considers the technical know-how of the staff of the water utility.

A novel methodology to sectorize water supply networks (WSNs) depending on a main transmission line is presented in this paper. The methodology is based on concepts derived from the social network theory and graph theory (namely, community detection and shortest path respectively); and also on a multi-objective optimization process by means of agent swarm optimization (ASO). A series of energy, operative, and economic criteria are optimized in this process. The core idea is to form sectors over the distribution network based on communities found using a community detection algorithm (Walktrap). The methodology is flexible and enables the technical staff in water utilities to make decisions at different stages. It has been tested by generating four feasible solutions over a portion of a real WSN.

The Exoskeleton is classified inside of a wider technology known as Wearable Robots, that group describes a robotic field who studies the interaction between the human body and the robotics. In those systems, a mechatronics structure is attached to different members of the human body, and while the wearer commands the mechanical system using physical signals, like the electronic stimulation produced by the orders of the brain, or the movements of the body generated by the muscles; the mechanical system do the hard work, like carrying heavier objects or helping the movement of handicaps members of the body. Since its conception in the sixties (Croshaw, 1969) the bibliography speaks about two models of wearable robots: the prosthetics and the orthotics systems (Fig. 1). The first group replaces the lost body members, while the second one assists to the body movements or, in other cases, extends the body capabilities.