Study of metal-containing proteins in the roots of Elsholtzia splendens using LA-ICP-MS and tandem mass spectrometry

In the present study, the metal-containing proteins in the roots of Cu-tolerant plant Elsholtzia splendens were investigated. The proteins from the plant roots were extracted and separated by two-dimensional gel electrophoresis (2D GE). Laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS) was used to screen metal-containing proteins on the dried 2D gels. Images of Cu, Zn, Na, Mg, K, Ca, Mn, Fe, P and S. and also of Ag, were obtained by scanning the gel (line by line) using the LA-ICP-MS techniques developed in our laboratory. Cu-, Zn- and Mg-containing proteins were found in the gel sections of interest via LA-ICP-MS imaging. These protein spots were then in-gel digested with trypsin and analyzed by liquid chromatography tandem mass spectrometry (LC-MS/MS) for identification. The mechanisms involved in Cu tolerance and accumulation were also discussed. (C) 2011 Elsevier B.V. All rights reserved

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Background: Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first clinical signs usually appear between 18 months and 8 years, but examples of later-onset have also been reported. Common manifestations include ataxia, seizures, vision impairment, and developmental regression. Because these are shared by other neurological diseases, identification of CLN6 genetic variants is imperative for early diagnosis. Results: We present one of the largest cohorts to date of genetically diagnosed CLN6 patients screened at a single center. In total 97 subjects, originating from 20 countries were screened between 2010 and 2020. They comprised 86 late-infantile, eight juvenile, and three adult-onset cases (two patients with Kufs disease type A, and one with teenage progressive myoclonic epilepsy). The male to female ratio was 1.06: 1.00. The age at referral was between six months and 33 years. The time from disease onset to referral ranged from less than 1 month to 8.3 years. The clinical phenotype consisted of a combination of symptoms, as reported before. We characterized a total of 45 distinct variants defining 45 distinct genotypes. Twenty-four were novel variants, some with distinct geographic associations. Remarkably, c.257A > G (p.H86R) was present in five out of 23 unrelated Egyptian individuals but in no patients from other countries. The most common genotype was homozygosity for the c.794_796del in-frame deletion. It was present in about one-third of CLN6 patients (28 unrelated cases, and 2 familial cases), all with late-infantile onset. Variants with a high likelihood of causing loss of CLN6 function were found in 21% of cases and made up 33% of all distinct variants. Forty-four percent of variants were classified as pathogenic or likely pathogenic. Conclusions: Our study significantly expands the number of published clinical cases and the mutational spectrum of disease-associated CLN6 variants, especially for the Middle Eastern and North African regions. We confirm previous observations regarding the most prevalent symptoms and recommend including CLN6 in the genetic diagnosis of patients presenting with early-onset abnormalities of the nervous system, musculoskeletal system, and eye

Human-robot collaborative navigation search using social reward sources

Trabajo presentado en el 4th Iberian Robotics Conference, celebrado en Oporto (Portugal) en noviembre de 2019This paper proposes a Social Reward Sources (SRS) design for a Human-Robot Collaborative Navigation (HRCN) task: human-robot collaborative search. It is a flexible approach capable of handling the collaborative task, human-robot interaction and environment restrictions, all integrated on a common environment. We modelled task rewards based on unexplored area observability and isolation and evaluated the model through different levels of human-robot communication.The models are validated through quantitative evaluation against both agents¿ individual performance and qualitative surveying of participants¿ perception. After that, the three proposed communication levels are com-pared against each other using the previous metrics.Work supported under projects ColRobTransp (DPI2016-78957-RAEI/FEDER EU), TERRINet (H2020-INFRAIA-2017-1-two-stage-730994) and by the Spanish State Research Agency through the Maria de Maeztu Seal of Excellence to IRI (MDM-2016-0656)