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DOI 10.3389/frobt.2023.1146018
Hand rehabilitation based on the RobHand exoskeleton in stroke patients: A case series study
2023-03-22
Barria, Patricio
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Riquelme, Matias
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Reppich, Hannah
;
Cisnal, Ana
;
Fraile, Juan-Carlos
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Perez-Turiel, Javier
;
Sierra, David
;
Aguilar Cardenas, Rolando Nemecio
;
Andrade, Asterio
;
Nuñez Espinosa, Cristian Andrés
Introduction: The RobHand (Robot for Hand Rehabilitation) is a robotic neuromotor rehabilitation exoskeleton that assists in performing flexion and extension movements of the fingers. The present case study assesses changes in manual function and hand muscle strength of four selected stroke patients after completion of an established training program. In addition, safety and user satisfaction are also evaluated. Methods: The training program consisted of 16 sessions; two 60-minute training sessions per week for eight consecutive weeks. During each session, patients moved through six consecutive rehabilitation stages using the RobHand. Manual function assessments were applied before and after the training program and safety tests were carried out after each session. A user evaluation questionnaire was filled out after each patient completed the program. Results: The safety test showed the absence of significant adverse events, such as skin lesions or fatigue. An average score of 4 out of 5 was obtained on the Quebec User Evaluation of Satisfaction with Assistive Technology 2.0 Scale. Users were very satisfied with the weight, comfort, and quality of professional services. A Kruskal-Wallis test revealed that there were not statistically significant changes in the manual function tests between the beginning and the end of the training program. Discussion: It can be concluded that the RobHand is a safe rehabilitation technology and users were satisfied with the system. No statistically significant differences in manual function were found. This could be due to the high influence of the stroke stage on motor recovery since the study was performed with chronic patients. Hence, future studies should evaluate the rehabilitation effectiveness of the repetitive use of the RobHand exoskeleton on subacute patients.
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DOI 10.3389/frobt.2023.1146018
Hand rehabilitation based on the RobHand exoskeleton in stroke patients: A case series study
2023-03-22
Barria, Patricio
;
Riquelme, Matias
;
Reppich, Hannah
;
Cisnal, Ana
;
Fraile, Juan-Carlos
;
Perez-Turiel, Javier
;
Sierra, David
;
Aguilar Cardenas, Rolando Nemecio
;
Andrade, Asterio
;
Nuñez Espinosa, Cristian Andrés
Introduction: The RobHand (Robot for Hand Rehabilitation) is a robotic neuromotor rehabilitation exoskeleton that assists in performing flexion and extension movements of the fingers. The present case study assesses changes in manual function and hand muscle strength of four selected stroke patients after completion of an established training program. In addition, safety and user satisfaction are also evaluated. Methods: The training program consisted of 16 sessions; two 60-minute training sessions per week for eight consecutive weeks. During each session, patients moved through six consecutive rehabilitation stages using the RobHand. Manual function assessments were applied before and after the training program and safety tests were carried out after each session. A user evaluation questionnaire was filled out after each patient completed the program. Results: The safety test showed the absence of significant adverse events, such as skin lesions or fatigue. An average score of 4 out of 5 was obtained on the Quebec User Evaluation of Satisfaction with Assistive Technology 2.0 Scale. Users were very satisfied with the weight, comfort, and quality of professional services. A Kruskal-Wallis test revealed that there were not statistically significant changes in the manual function tests between the beginning and the end of the training program. Discussion: It can be concluded that the RobHand is a safe rehabilitation technology and users were satisfied with the system. No statistically significant differences in manual function were found. This could be due to the high influence of the stroke stage on motor recovery since the study was performed with chronic patients. Hence, future studies should evaluate the rehabilitation effectiveness of the repetitive use of the RobHand exoskeleton on subacute patients.
Scopus© Citations 18 2
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DOI 10.1182/blood-2022-168211
Unbiased NGS Approach for IGHV Mutational Status, Clonal Space and Immune Repertoire Assessment in Chronic Lymphocytic Leukemia
2022-11-15
Gonzalez-Puelma, Jorge
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Opezo, Pablo
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Alvarez-Ojeda, Hermy
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Sepulveda Yañez, Julieta Haydee
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Elena Marquez, Maria
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Alvarez-Saravia, Diego
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Cardemil, Daniela
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Navarrete Signorile, Marcelo Alejandro
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Uribe Paredes, Roberto Alex
;
Torres-Almonacid, Jorge
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DOI 10.1182/blood-2022-168211
Unbiased NGS Approach for IGHV Mutational Status, Clonal Space and Immune Repertoire Assessment in Chronic Lymphocytic Leukemia
2022-11-15
Gonzalez-Puelma, Jorge
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Opezo, Pablo
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Alvarez-Ojeda, Hermy
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Sepulveda Yañez, Julieta Haydee
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Elena Marquez, Maria
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Alvarez-Saravia, Diego
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Cardemil, Daniela
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Navarrete Signorile, Marcelo Alejandro
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Uribe Paredes, Roberto Alex
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Torres-Almonacid, Jorge
5
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DOI 10.3390/ijms222313015
Integration of Mutational Signature Analysis with 3D Chromatin Data Unveils Differential AID-Related Mutagenesis in Indolent Lymphomas
2021-12
Sepulveda Yañez, Julieta Haydee
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Alvarez-Saravia, Diego
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Fernández Goycoolea, José Antonio
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Aldridge, Jacqueline
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van Bergen, Cornelis A. M.
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Posthuma, Ward
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Uribe Paredes, Roberto Alex
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Veelken, Hendrik
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Navarrete Signorile, Marcelo Alejandro
Activation-induced deaminase (AID) is required for somatic hypermutation in immunoglobulin genes, but also induces off-target mutations. Follicular lymphoma (FL) and chronic lymphocytic leukemia (CLL), the most frequent types of indolent B-cell tumors, are exposed to AID activity during lymphomagenesis. We designed a workflow integrating de novo mutational signatures extraction and fitting of COSMIC (Catalogue Of Somatic Mutations In Cancer) signatures, with tridimensional chromatin conformation data (Hi-C). We applied the workflow to exome sequencing data from lymphoma samples. In 33 FL and 30 CLL samples, 42% and 34% of the contextual mutations could be traced to a known AID motif. We demonstrate that both CLL and FL share mutational processes dominated by spontaneous deamination, failures in DNA repair, and AID activity. The processes had equiproportional distribution across active and nonactive chromatin compartments in CLL. In contrast, canonical AID activity and failures in DNA repair pathways in FL were significantly higher within the active chromatin compartment. Analysis of DNA repair genes revealed a higher prevalence of base excision repair gene mutations (p = 0.02) in FL than CLL. These data indicate that AID activity drives the genetic landscapes of FL and CLL. However, the final result of AID-induced mutagenesis differs between these lymphomas depending on chromatin compartmentalization and mutations in DNA repair pathways.
Scopus© Citations 2 4
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DOI 10.1007/978-3-030-58814-4_63
Error Correction in Nanopore Reads for de novo Genomic Assembly
2020
Aldridge-Aguila, Jacqueline
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Alvarez-Saravia, Diego
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Navarrete Signorile, Marcelo Alejandro
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Uribe Paredes, Roberto Alex
The purpose of genome sequencing is to determine the DNA sequence of a given organism. Current sequencing technologies can be classified by the type of output data. Whereas Nanopore technology generates long reads with high error rates, short read technologies - such as Illumina sequencing - generate shorter reads but with low error rate. Since de novo genome assembly of sequencing reads is defined as a NP-hard problem, it remains as one of the major challenges for defining reference genomes of different species. This paper aims to improve the quality of reads obtained through Oxford Nanopore Technologies (ONT). We developed an algorithm to associate the reads obtained from Illumina with the ones obtained with Nanopore. Low accuracy ONT reads were corrected with the high quality Illumina reads to achieve an improved sequencing data. The inclusion of this algorithm as a preprocessing step resulted in improved coverage, contig length, and mismatch rate when performing de novo genome assembly of a bacterial genome with well known tools.
1
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DOI 10.1007/978-3-030-17938-0_27
Identification of Immunoglobulin Gene Usage in Immune Repertoires Sequenced by Nanopore Technology
2019
Ahumada-Garcia, Roberto
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Gonzalez-Puelma, Jorge
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Alvarez-Saravia, Diego
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Barrientos, Ricardo J.
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Uribe Paredes, Roberto Alex
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Lopez-Cortes, Xaviera A.
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Navarrete Signorile, Marcelo Alejandro
The immunoglobulin receptor represents a central molecule in acquired immunity. The complete set of immunoglobulins present in an individual is known as immunological repertoire. The identification of this repertoire is particularly relevant in immunology and cancer research and diagnostics. In a seminal work we provided a proof of concept of the novel ARTISAN-PCR amplification method, we adapted this technology for sequencing using Nanopore technology. This approach may represent a faster, more portable and costeffective alternative to current methods. In this study we present the pipeline for the analysis of immunological repertoires obtained by this approach. This paper shows the performance of immune repertoires sequenced by Nanopore technology, using measures of error, coverage and gene usage identification. In the bioinformatic methodology used in this study, first, Albacore Base calling software, was used to translate the electrical signal of Nanopore to DNA bases. Subsequently, the sequons, introduced during amplification, were aligned using bl2seq from Blast. Finally, selected reads were mapped using IMGT/ HighV-QUEST and IgBlast. Our results demonstrate the feasibility of immune repertoire sequencing by Nanopore technology, obtaining higher depth than PacBio sequencing and better coverage than pair-end based technologies. However, the high rate of systematic errors indicates the need of improvements in the analysis pipeline, sequencing chemistry and/or molecular amplification.
Scopus© Citations 1 1
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DOI 10.3390/v13050883
Mutation in a SARS-CoV-2 Haplotype from Sub-Antarctic Chile Reveals New Insights into the Spike's Dynamics
2021-5
Gonzalez-Puelma, Jorge
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Aldridge, Jacqueline
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Montes de Oca, Marco
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Pinto, Monica
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Uribe Paredes, Roberto Alex
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Fernández Goycoolea, José Antonio
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Alvarez-Saravia, Diego
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Alvarez, Hermy
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Encina, Gonzalo
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Weitzel, Thomas
The emergence of SARS-CoV-2 variants, as observed with the D614G spike protein mutant and, more recently, with B.1.1.7 (501Y.V1), B.1.351 (501Y.V2) and B.1.1.28.1 (P.1) lineages, represent a continuous threat and might lead to strains of higher infectivity and/or virulence. We report on the occurrence of a SARS-CoV-2 haplotype with nine mutations including D614G/T307I double-mutation of the spike. This variant expanded and completely replaced previous lineages within a short period in the subantarctic Magallanes Region, southern Chile. The rapid lineage shift was accompanied by a significant increase of cases, resulting in one of the highest incidence rates worldwide. Comparative coarse-grained molecular dynamic simulations indicated that T307I and D614G belong to a previously unrecognized dynamic domain, interfering with the mobility of the receptor binding domain of the spike. The T307I mutation showed a synergistic effect with the D614G. Continuous surveillance of new mutations and molecular analyses of such variations are important tools to understand the molecular mechanisms defining infectivity and virulence of current and future SARS-CoV-2 strains.
Scopus© Citations 9 6
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DOI 10.32641/andespediatr.v93i3.3636
Caracterización funcional de pacientes con parálisis cerebral que viven en la región de Magallanes y la Antártica Chilena
2022-6
Barria Aburto, Patricio
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Barria Ruiz, Vanessa
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Castillo Aguilar, Matías
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Aguilar Cardenas, Rolando Nemecio
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Andrade Gallardo, Asterio
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Nuñez Espinosa, Cristian Andrés
Resumen: Objetivo: Caracterizar funcionalmente a pacientes con Parálisis Cerebral (PC) que viven en la región de Magallanes y la Antártica Chilena. Pacientes y Método: Estudio observacional descriptivo-retros- pectivo de pacientes con parálisis cerebral, registrados en el Programa de Rehabilitación Ambulatorio de la Corporación de Rehabilitación Club de Leones Cruz del Sur de Punta Arenas entre los años 1986 y 2018. Los pacientes con PC se categorizaron clínicamente, y posteriormente se caracterizaron funcionalmente en base a sistemas de clasificación de habilidades motoras (escala GMFCS), ma nuales (escala MACS), alimentación (escala EDACS) y comunicación (escala CFCS). Resultados: Se incluyeron 106 pacientes con PC. En relación con la clasificación clínica, el tipo más común de PC fue la parálisis espástica bilateral, quienes también presentan el mayor porcentaje de compromiso de funcional en cada una de las áreas evaluada, seguido por la parálisis espástica unilateral. Los casos de PC distónica y otros tipos no clasificables presentaron menor frecuencia de casos. En base a la sub- clasificación clínica diagnóstica, la mayor frecuencia detectada fue la diplejia espástica, concentrando el compromiso funcional especialmente en las habilidades manuales y de comunicación de nivel I en comparación a la hemiplejia. En el caso de cuadriplejia, mixta y no clasificable, presentan menor frecuencia de casos, con un mayor compromiso general en las habilidades de alimentación en nivel I. Conclusión: Los resultados observados de la PC en la región de Magallanes y la Antártica Chilena son similares a estudios disponibles en la literatura. La completa evaluación y clasificación de pacientes con PC posibilita una mayor comprensión de la patología para futuros estudios.
Scopus© Citations 1 11 10
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DOI 10.1016/j.ft.2021.06.001
Telerehabilitation in the high southern latitude. Results of a treatment implementation for people with disabilities during the COVID-19 pandemic Telerehabilitación en alta latitud sur. Resultados de una implementación de tratamiento para personas en situación de discapacidad durante la pandemia de COVID-19
2022-3-1
Andrade Gallardo, A.
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Rogosich Cvitanic, V.
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Barría Aburto, P.
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Henriquez Diaz, H.
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Aguilar Cardenas, Rolando Nemecio
;
Nuñez Espinosa, Cristian Andrés
The health situation after the emergence of COVID-19 has precipitated the use of new technologies and the adaptation of rehabilitation services of all kinds. Objective: To describe the implementation of a telerehabilitation system in patients with different diagnoses of disability living in the high southern latitude during the COVID-19 pandemic. Methods: A system of personalized therapies guided by videoconference was implemented for patients with varying diagnoses of disability. The patients were grouped into three age groups (Minors; Adults; Older Adults) and six types of clinical diagnosis (conditions originating in the perinatal period, diseases of the circulatory system, diseases of the nervous system, diseases of the musculoskeletal system, and connective tissue, mental and behavioural treatments and other diagnoses). The patient's diagnosis, the type of care required, the number of sessions, and the level of satisfaction of each user were evaluated based on the telerehabilitation they received. Results: 101 patients with an average age of 31 ± 26 years participated, 52.5% were male. All of them managed to handle the minimum technologies required for telerehabilitation care. There is a degree of association between the patient's diagnosis and the age group (p <.05), as well as between the diagnosis and the type of care required (p <.05). After implementation, users positively evaluated distance therapy. Conclusions: Telerehabilitation can be implemented in patients with disabilities in areas of high southern latitude, respecting the different stages of the process, to ensure it is correctly delivered.
Scopus© Citations 3 4

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