Late-onset thymidine kinase 2 deficiency: a review of 18 cases

BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity. METHODS: We describe 18 patients with mitochondrial myopathy due to mutations in the TK2 gene with absence of clinical symptoms until the age of 12. RESULTS: The mean age of onset was 31 years. The first symptom was muscle limb weakness in 10/18, eyelid ptosis in 6/18, and respiratory insufficiency in 2/18. All patients developed variable muscle weakness during the evolution of the disease. Half of patients presented difficulty in swallowing. All patients showed evidence of respiratory muscle weakness, with need for non-invasive Mechanical Ventilation in 12/18. Four patients had deceased, all of them due to respiratory insufficiency. We identified common radiological features in muscle magnetic resonance, where the most severely affected muscles were the gluteus maximus, semitendinosus and sartorius. On muscle biopsies typical signs of mitochondrial dysfunction were associated with dystrophic changes. All mutations identified were previously reported, being the most frequent the in-frame deletion p.Lys202del. All cases showed multiple mtDNA deletions but mtDNA depletion was present only in two patients. CONCLUSIONS: The late-onset is the less frequent form of presentation of the TK2 deficiency and its natural history is not well known. Patients with late onset TK2 deficiency have a consistent and recognizable clinical phenotype and a poor prognosis, due to the high risk of early and progressive respiratory insufficiency.Instituto de Salud Carlos III PI16-01843 PI16/00579 CP09/00011Subdirección General de Evaluación y Fomento de la Investigación Sanitaria PI16-01843 PI16/00579 CP09/00011 PI 15/00431 PMP15/0002

A Modular Mobile Robotic Platform to Assist People with Different Degrees of Disability

Robotics to support elderly people in living independently and to assist disabled people in carrying out the activities of daily living independently have demonstrated good results. Basically, there are two approaches: one of them is based on mobile robot assistants, such as Care-O-bot, PR2, and Tiago, among others; the other one is the use of an external robotic arm or a robotic exoskeleton fixed or mounted on a wheelchair. In this paper, a modular mobile robotic platform to assist moderately and severely impaired people based on an upper limb robotic exoskeleton mounted on a robotized wheel chair is presented. This mobile robotic platform can be customized for each user’s needs by exploiting its modularity. Finally, experimental results in a simulated home environment with a living room and a kitchen area, in order to simulate the interaction of the user with different elements of a home, are presented. In this experiment, a subject suffering from multiple sclerosis performed different activities of daily living (ADLs) using the platform in front of a group of clinicians composed of nurses, doctors, and occupational therapists. After that, the subject and the clinicians replied to a usability questionnaire. The results were quite good, but two key factors arose that need to be improved: the complexity and the cumbersome aspect of the platform.This work was supported by the AIDE project through Grant Agreement No. 645322 of the European Commission, by the Conselleria d’Educacio, Cultura i Esport of Generalitat Valenciana, by the European Social Fund—Investing in your future, through the grant ACIF 2018/214, and by the Promoción de empleo joven e implantación de garantía juvenil en I+D+I 2018 through the grant PEJ2018-002670-A

Design of a multibubble sonoluminescence experiment for a microgravity platform

Peer ReviewedPostprint (published version

Tele-Rehabilitation Versus Local Rehabilitation Therapies Assisted by Robotic Devices: A Pilot Study with Patients

The present study aims to evaluate the advantages of a master-slave robotic rehabilitation therapy in which the patient is assisted in real-time by a therapist. We have also explored if this type of strategy is applicable in a tele-rehabilitation environment. A pilot study has been carried out involving 10 patients who have performed a point-to-point rehabilitation exercise supported by three assistance modalities: fixed assistance (without therapist interaction), local therapist assistance, and remote therapist assistance in a simulated tele-rehabiliation scenario. The rehabilitation exercise will be performed using an upper-limb rehabilitation robotic device that assists the patients through force fields. The results suggest that the assistance provided by the therapist is better adapted to patient needs than fixed assistance mode. Therefore, it maximizes the patient’s level of effort, which is an important aspect to improve the rehabilitation outcomes. We have also seen that in a tele-rehabilitation environment it is more difficult to assess when to assist the patient than locally. However, the assistance suits patients better than the fixed assistance mode.This work was funded by the Conselleria d’Educacio, Cultura i Esport of Generalitat Valenciana by the European Social Fund—Investing in your Future, through the grant ACIF 2018/214, PEJ2018-002684-A and PEJ2018-002670-A, and by the Spanish Ministry of Science and Innovation through the project PID2019-108310RB-I00

CONOCIMIENTO ESPECIALIZADO PARA ENSEÑAR LA OPERACIÓN DE RESTA EN EDUCACIÓN INFANTIL

 Resumen: En este trabajo reflexionamos sobre el conocimiento profesional del profesor de Educación Infantil en relación con la resta. La atención al conocimiento deseable de este profesional es relativamente reciente, existiendo escasos estudios que aborden este tema. Partimos de la consideración de que este conocimiento es especializado; diferente al del profesor de Primaria o Secundaria; y su caracterización debe realizarse desde un enfoque centrado en la propia matemática. Esto nos lleva a considerar el modelo del Conocimiento Especializado del Profesor de Matemáticas (Mathematics Teachers’ Specialised Knowledge, MTSK) como herramienta teórica y analítica idónea para ofrecer una propuesta de elementos de conocimiento especializado que, a la luz de nuestra experiencia docente e investigadora, consideramos que deseables para este profesional en relación con la resta, incluyendo aspectos de conocimiento del contenido (Mathematical Knowledge, MK) y de conocimiento didáctico del contenido (Pedagogical Content Knowledge, PCK). La reflexión sobre esta propuesta nos lleva a destacar tres elementos principales que parecen caracterizadores de la naturaleza de este conocimiento: su densidad y cohesión, la profundidad de los conocimientos matemáticos implicados y su repercusión para construir un adecuado PCK; y la relevancia del conocimiento de las fases que los niños siguen en su proceso de comprensión del número. Se aportan sugerencias para la formación inicial y continua de estos profesionales.Palabras clave: Conocimiento especializado del profesor de matemáticas. MTSK. Profesor de Educación Infantil. Resta. Conocimiento matemático del contenido y conocimiento didáctico del contenido.KINDERGARTEN TEACHERS’ SPECIALISED KNOWLEDGE ON SUBTRACTION Abstract: In this paper we reflect upon the early childhood teachers’ professional knowledge in relation to subtraction. Paying attention to this professional desirable knowledge is relatively recent, and thus there are few studies that address it. We assume as a starting point the consideration that this knowledge is specialized; differs from that of primary or secondary teachers’; and its characterization must be carried out from an approach centered on mathematics itself. This leads us to consider the model of Mathematics Teachers’ Specialised Knowledge (MTSK) as a suitable theoretical and analytical tool to offer a proposal of specialized knowledge elements that, in light of our teaching and research experience, we considered desirable for the work of teaching of these professionals in relation to subtraction. In this proposal we include aspects of Mathematical Knowledge (MK) and of Pedagogical Content knowledge (PCK). In the proposal we highlight three main elements that seem to characterize the nature of this knowledge: its density and cohesion; the depth of the mathematical knowledge involved and its impact to build an adequate PCK; and the relevance of knowledge of the phases that children follow in their process of understanding the number. Some recommendations for early years teachers’ education are provided.Keywords: Mathematics Teachers’ Specialised Knowledge. MTSK. Early childhood teacher. Subtraction. Mathematical knowledge. Pedagogical content knowledge.CONHECIMENTO ESPECIALIZADO DO PROFESSOR DA EDUCAÇÃO INFANTIL NO ÂMBITO DO TEMA DA SUBTRAÇÃO Resumo: Neste trabalho, refletimos sobre o conhecimento profissional do professor de Educação Infantil em relação à subtração. Considerar como foco de atenção o conhecimento desejável destes professores é algo relativamente recente, existindo poucos estudos que abordam esta questão. Partimos da consideração de que esse conhecimento é especializado; diferente do conhecimento do professor das etapas escolares seguintes; e sua caracterização deve ser realizada a partir de uma abordagem centrada na própria matemática. Nesse sentido consideramos a conceitualização do Mathematics Teachers’ Specialized Knowledge (MTSK) como uma ferramenta teórica e analítica para conceitualizar uma proposta de elementos constituintes do conhecimento especializado ideal do professor no âmbito que, à luz de nossa experiência de ensino e pesquisa, consideramos desejável para este profissional em relação à subtração. Nesta proposta incluímos aspectos do conhecimento do conteúdo e do conhecimento pedagógico do conteúdo (PCK). Nesta proposta destacamos três elementos principais que parecem caracterizar a natureza desse conhecimento: sua densidade e coesão; a profundidade do conhecimento matemático envolvido e seu impacto para construir um PCK adequado; e a relevância do conhecimento do professor das fases que as crianças seguem no seu processo de compreensão do número em etapas educativas posteriores. São fornecidas sugestões para a formação inicial e contínua de professores.Palavras chave: Conhecimento Especializado em Professores de Matemática. MTSK. Professor de Educação Infantil. Subtração. Conhecimento matemático do conteúdo e conhecimento pedagógico do conteúdo

Population prevalence and control of cardiovascular risk factors : What electronic medical records tell us

To analyze the prevalence, control, and management of hypertension, hypercholesterolemia, and diabetes mellitus type 2 (DM2). Cross-sectional analysis of all individuals attended in the Catalan primary care centers between 2006 and 2009. History of cardiovascular diseases, diagnosis and treatment of hypertension, hypercholesterolemia, DM2, lipid profile, glycemia and blood pressure data were extracted from electronic medical records. Age-standardized prevalence and levels of management and control were estimated. Individuals aged 35-74 years using primary care databases. A total of 2,174,515 individuals were included (mean age 52 years [SD 11], 47% men). Hypertension was the most prevalent cardiovascular risk factor (39% in women, 41% in men) followed by hypercholesterolemia (38% and 40%) and DM2 (12% and 16%), respectively. Diuretics and angiotensin-converting enzyme inhibitors were most often prescribed for hypertension control (<140/90 mmHg, achieved in 68% of men and 60% of women treated). Hypercholesterolemia was controlled (low-density lipoprotein cholesterol <130 mg/dl) in just 31% of men and 26% of women with no history of cardiovascular disease, despite lipid-lowering treatment, primarily (90%) with statins. The percentage of women and men with DM2 and with glycated hemoglobin <7% was 64.7% and 59.2%, respectively; treatment was predominantly with oral hypoglycemic agents alone (70%), or combined with insulin (15%). Hypertension was the most prevalent cardiovascular risk factor in the Catalan population attended at primary care centers. About two thirds of individuals with hypertension or DM2 were adequately controlled; hypercholesterolemia control was particularly low