A Low-Cost System Using a Big-Data Deep-Learning Framework for Assessing Physical Telerehabilitation: A Proof-of-Concept.

The consolidation of telerehabilitation for the treatment of many diseases over the last decades is a consequence of its cost-effective results and its ability to offer access to rehabilitation in remote areas. Telerehabilitation operates over a distance, so vulnerable patients are never exposed to unnecessary risks. Despite its low cost, the need for a professional to assess therapeutic exercises and proper corporal movements online should also be mentioned. The focus of this paper is on a telerehabilitation system for patients suffering from Parkinson's disease in remote villages and other less accessible locations. A full-stack is presented using big data frameworks that facilitate communication between the patient and the occupational therapist, the recording of each session, and real-time skeleton identification using artificial intelligence techniques. Big data technologies are used to process the numerous videos that are generated during the course of treating simultaneous patients. Moreover, the skeleton of each patient can be estimated using deep neural networks for automated evaluation of corporal exercises, which is of immense help to the therapists in charge of the treatment programs.

Respuesta de los autores: Factores asociados a una rápida petición de ayuda en los pacientes con ictus isquémico / Authors' reply: Factors associated with a rapid call for assistance for patients with ischemic stroke

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Effects of home-based mirror therapy and cognitive therapeutic exercise on the improvement of the upper extremity functions in patients with severe hemiparesis after a stroke: a protocol for a pilot randomised clinical trial.

INTRODUCTION: Neuroplasticity is defined as the capacity of the brain to reorganise new neuronal pathways. Mirror therapy (MT) and cognitive therapeutic exercise (CTE) are two neurorehabilitation techniques based on neuroplasticity and designed to improve the motor functions of the affected upper extremity in patients with severe hemiparesis after a stroke. Home-based interventions are an appropriate alternative to promote independence and autonomy. The objective of this study is to evaluate which of these techniques, MT and CTE, combined with task-oriented training, is more effective in functional recovery and movement patterns of the upper extremities in patients with severe hemiparesis after a stroke. METHODS AND ANALYSIS: This is a home-based, single-blind, controlled, randomised clinical trial with three parallel arms, including 154 patients who had a stroke aged above 18 years. The primary outcome will be the functionality of the affected upper extremity measured using the Fugl-Meyer Assessment. Secondary variables will include cognitive performance, emotional state, quality of life and activities of daily living. During 6 weeks, one of the intervention groups will receive a treatment based on MT and the other one on CTE, both combined with task-oriented training. No additional interventions will be provided to the control group. To assess the progress of patients who had a stroke in the subacute phase, all variables will be evaluated at different visits: initial (just before starting treatment and 4 weeks post-stroke), post-intervention (6 weeks after initial) and follow-up (6 months). ETHICS AND DISSEMINATION: This protocol has been approved by the Institutional Review Board (CEIm-2.134/2.019) and registered at ClinicalTrials.gov (NCT04163666). The results will be disseminated through open-access peer-reviewed journals, conference presentation, broadcast media and a presentation to stakeholders. These study results will provide relevant and novel information on effective neurorehabilitation strategies and improve the quality of intervention programmes aimed at patients after a stroke. TRIAL REGISTRATION NUMBER: ClinicalTrials.gov (NCT04163666).

Factores asociados a una rápida petición de ayuda en los pacientes con ictus isquémico / Factors associated with a rapid call for assistance for patients with ischemic stroke

Objetivo. Identificar los factores asociados con una respuesta inicial inmediata a los síntomas en los pacientes que han padecido un ictus isquémico. Método. Estudio observacional transversal en el que se incluyeron a todos los pacientes con ictus isquémico ingresados de forma consecutiva en el Hospital Universitario de Burgos (España) durante 1 año. Se recogieron parámetros sociodemográficos, clínicos, conductuales, cognitivos y contextuales, y se estudió su posible relación con el tiempo de reacción del paciente (TR) mediante análisis univariante y multivariante. Resultados. Se incluyeron 425 pacientes (mediana del TR de 140 minutos). El TR supuso un 72,6% del tiempo prehospitalario total (TPH), con una respuesta inmediata si el paciente se encontraba acompañado (OR 9,57; IC95% 3,89-23,52), si los síntomas se iniciaban durante el día (OR 8,77; 3,40-22,63), si el paciente sabía cómo actuar ante un posible ictus (OR 3,84; 2,77-7,09), si el primer contacto médico era con el servicio de emergencias médicas (SEM) (OR 3,03; 1,62-5,68), si el paciente percibía la situación como grave o muy grave (OR 2,38; 1,17-4,83) o si el ictus ocurría en el ámbito urbano (OR 2,17; 1,16-4,06). Conclusión. El intervalo de tiempo entre el inicio de los síntomas y la respuesta inicial del paciente se relaciona con factores conductuales, cognitivos y contextuales, los cuales deberían ser considerados en la planificación de futuras campañas educacionales

Objective. To identify factors related to a rapid response to the onset of symptoms and a call for help for patients with ischemic stroke. Methods. Observational cross-sectional study of all patients with ischemic stroke admitted consecutively to Hospital Universitario de Burgos in Spain during 1 year. We collected sociodemographic, clinical, behavioral, cognitive, and contextual data for all patients and applied uni- and multivariate analysis to explore possible associations with the patient's response time. Results. A total of 425 patients were included. The mean patient response time was 140.00 minutes. Patient delay accounted for 72.6% of the total prehospital response time. Factors associated with a rapid call for help were the presence of an accompanying person (OR, 9.57; 95% CI, 3.89-23.52), daytime onset of symptoms (OR, 8.77; 3.40-22.63), patient knowledge of how to act in case of stroke symptoms (OR, 3.84; 2.77-7.09), first medical contact through the public health system's emergency medical service (OR, 3.03; 1.62-5.68), patient perception of symptoms as severe or very severe (OR, 2.38; 1.17-4.83), and stroke onset in an urban area (OR, 2.17; 1.16-4.06). Conclusions. The patient's response time between onset of symptoms is related to behavioral, cognitive and contextual factors that should be taken into account when planning future patient education campaigns

Factors associated with a rapid call for assistance for patients with ischemic stroke. / Factores asociados a una rápida petición de ayuda en los pacientes con ictus isquémico.

OBJECTIVES: To identify factors related to a rapid response to the onset of symptoms and a call for help for patients with ischemic stroke. MATERIAL AND METHODS: Observational cross-sectional study of all patients with ischemic stroke admitted consecutively to Hospital Universitario de Burgos in Spain during 1 year. We collected sociodemographic, clinical, behavioral, cognitive, and contextual data for all patients and applied uni- and multivariate analysis to explore possible associations with the patient's response time. RESULTS: A total of 425 patients were included. The mean patient response time was 140.00 minutes. Patient delay accounted for 72.6% of the total prehospital response time. Factors associated with a rapid call for help were the presence of an accompanying person (OR, 9.57; 95% CI, 3.89-23.52), daytime onset of symptoms (OR, 8.77; 3.40- 22.63), patient knowledge of how to act in case of stroke symptoms (OR, 3.84; 2.77-7.09), first medical contact through the public health system's emergency medical service (OR, 3.03; 1.62-5.68), patient perception of symptoms as severe or very severe (OR, 2.38; 1.17-4.83), and stroke onset in an urban area (OR, 2.17; 1.16-4.06). CONCLUSION: The patient's response time between onset of symptoms is related to behavioral, cognitive and contextual factors that should be taken into account when planning future patient education campaigns.

OBJETIVO: Identificar los factores asociados con una respuesta inicial inmediata a los síntomas en los pacientes que han padecido un ictus isquémico. METODO: Estudio observacional transversal en el que se incluyeron a todos los pacientes con ictus isquémico ingresados de forma consecutiva en el Hospital Universitario de Burgos (España) durante 1 año. Se recogieron parámetros sociodemográficos, clínicos, conductuales, cognitivos y contextuales, y se estudió su posible relación con el tiempo de reacción del paciente (TR) mediante análisis univariante y multivariante. RESULTADOS: Se incluyeron 425 pacientes (mediana del TR de 140 minutos). El TR supuso un 72,6% del tiempo prehospitalario total (TPH), con una respuesta inmediata si el paciente se encontraba acompañado (OR 9,57; IC95% 3,89-23,52), si los síntomas se iniciaban durante el día (OR 8,77; 3,40-22,63), si el paciente sabía cómo actuar ante un posible ictus (OR 3,84; 2,77-7,09), si el primer contacto médico era con el servicio de emergencias médicas (SEM) (OR 3,03; 1,62-5,68), si el paciente percibía la situación como grave o muy grave (OR 2,38; 1,17-4,83) o si el ictus ocurría en el ámbito urbano (OR 2,17; 1,16-4,06). CONCLUSIONES: El intervalo de tiempo entre el inicio de los síntomas y la respuesta inicial del paciente se relaciona con factores conductuales, cognitivos y contextuales, los cuales deberían ser considerados en la planificación de futuras campañas educacionales.

Factors Associated with Shortening of Prehospital Delay among Patients with Acute Ischemic Stroke.

BACKGROUND: Despite recent advances in acute stroke care, only 1-8% of patients can receive reperfusion therapies, mainly because of prehospital delay (PHD). OBJECTIVE: This study aimed to identify factors associated with PHD from the onset of acute stroke symptoms until arrival at the hospital. METHODS: A cross-sectional study was conducted including all patients consecutively admitted with stroke symptoms to Burgos University Hospital (Burgos, Spain). Socio-demographic, clinical, behavioral, cognitive, and contextualized characteristics were recorded, and their possible associations with PHD were studied using univariate and multivariable regression analyses. RESULTS: The median PHD of 322 patients was 138.50 min. The following factors decreased the PHD and time until reperfusion treatment where applicable: asking for help immediately after the onset of symptoms (OR 10.36; 95% confidence interval (CI) 4.47-23.99), onset of stroke during the daytime (OR 7.73; 95% CI 3.09-19.34) and the weekend (OR 2.64; 95% CI 1.19-5.85), occurrence of stroke outside the home (OR 7.09; 95% CI 1.97-25.55), using a prenotification system (OR 6.46; 95% CI 1.71-8.39), patient's perception of being unable to control symptoms without assistance (OR 5.14; 95% CI 2.60-10.16), previous knowledge of stroke as a medical emergency (OR 3.20; 95% CI 1.38-7.40), call to emergency medical services as the first medical contact (OR 2.77; 95% CI 1.32-5.88), speech/language difficulties experienced by the patient (OR 2.21; 95% CI 1.16-4.36), and the identification of stroke symptoms by the patient (OR 1.98; 95% CI 1.03-3.82). CONCLUSIONS: The interval between the onset of symptoms and arrival at the hospital depends on certain contextual, cognitive, and behavioral factors, all of which should be considered when planning future public awareness campaigns.

Estudio de validación de la versión española de la escala Fahn-Tolosa-Marín para el temblor esencial / Validation study of the Spanish version of the Fahn-Tolosa-Marín scale for essential tremor

Introducción: Hasta ahora no existe una validación formal de la versión española de la escala Fahn-Tolosa-Marín (FTM), usada ampliamente para valorar la gravedad del temblor. Objetivo: Analizar la validez y la fiabilidad de la versión en castellano de la escala FTM. Pacientes y métodos: Estudio observacional transversal en pacientes diagnosticados de temblor esencial. Se evaluó la gravedad del temblor con la escala FTM; la discapacidad en el miembro superior, con la escala Disabilities of the Arm, Shoulder and Hand (DASH), y la calidad de vida relacionada con la salud, con el cuestionario Short Form-36 Health Survey (SF-36). El análisis estadístico incluyó descripción de la muestra, fiabilidad (alfa de Cronbach), validez convergente y capacidad discriminatoria (curvas ROC). Resultados: Se incluyó a 40 pacientes (22 mujeres y 18 hombres con temblor esencial), con una edad media de 65,8 ± 14,7 años (rango: 21-90 años). La fiabilidad de la FTM fue alta, con un alfa de Cronbach de 0,90 (subescala A: 0,85; subescala B: 0,91; subescala C: 0,77). Para evaluar la discapacidad originada por el temblor esencial, la validez convergente entre las escalas DAHS y FTM (subescala C) fue adecuada, con una capacidad diagnóstica aceptable: área bajo la curva de 0,86 (intervalo de confianza al 95%: 0,67-1,00), sensibilidad del 78% y especificidad del 75%, para un punto de corte mayor de 5,5. Conclusión: La escala FTM es un instrumento fiable, válido y preciso para la valoración del temblor esencial en la población española adulta

Introduction: The Fahn-Tolosa-Marín (FTM) tremor rating scale has been widely used in clinics for the estimation of tremor severity. However, a Spanish language version of this scale has still not been formally validated. Aim: To provide support to the validity and reliability of this version of FTM Scale. Patients and methods: A cross-sectional study was conducted on essential tremor patients. Severity was rated using the FTM scale. Upper limb disability was evaluated by terms of Disabilities of the Arm, Shoulder and Hand Scale (DASH), and to health-related quality of life using the Short Form-36 Health Survey (SF-36). Statistical analysis included sample description, reliability (Cronbach’s alpha), convergent validity, and discrimination capacity tests (ROC curves). Results: Forty patients with essential tremor (22 women, 18 men) were included, with a mean age of 65.8 ± 14.7 years (range: 21-90 years). Internal consistency of the FTM was high: Cronbach’s alpha: 0,90 (subscale A: 0.85; subscale B: 0.91; subscale C: 0.77), and the floor and ceiling effects were negligible. The FTM (subscale C) showed high correlations with DASH, and acceptable diagnostic capacity, with an area under the curve of 0.86 (95% CI: 0.67-1.00), sensitivity 78% and specificity 75% for a cut-off score > 5.5. Conclusion: The Spanish version of FTM the rating scale is a reliable and valid tool to evaluate disability in patients with essential tremor, and a suitable instrument for use in medical research, as well as in clinical practice

Factors associated with the activation of emergency medical services in patients with acute stroke: a prospective study. / Factores asociados con la activación del servicio de emergencias médicas en el paciente con ictus agudo: un estudio prospectivo.

OBJECTIVES: To identify factors associated with activation of emergency medical services (EMS) in stroke. MATERIAL AND METHODS: Cross-sectional study of all patients admitted with stroke to Hospital Universitario de Burgos in Spain between September 1, 2015, and August 31, 2016. We recorded sociodemographic, clinical, behavioral, cognitive, and context information and explored possible associations with calls for EMS units. RESULTS: Three hundred eleven patients were included. EMS units were activated in 171 cases (55%) associated with an assessment that the patient was unable to manage the health situation from the onset of symptoms (adjusted odds ratio [OR], 6.95; 95% CI, 3.64-13.26), a witness's call for help (rather than the patient's) (OR, 5.68; 95% CI, 2.99-10.83), serious neurological deficit defined by a score over 16 on the National Institute of Health Stroke Scale (OR, 4.51; 95% CI, 1.10-18.46), a patient's awareness of serious symptoms leading to a call for help (OR, 4.03; 95% CI, 1.42-11.42), and a patient's history of high blood pressure (OR, 2.38; 95% CI, 1.25-4.54). CONCLUSION: Calls for EMS attendance from either a patient or a witness are associated with objective signs of severe stroke and subjective perception of severity.

OBJETIVO: Identificar los factores asociados con la activación del servicio de emergencias médicas (SEM) en pacientes que han padecido un ictus. METODO: Estudio transversal en el que se incluyeron a todos los pacientes con ictus ingresados en el Hospital Universitario de Burgos (España) entre el 01/09/2015 y el 31/08/2016. Se recogieron datos sociodemográficos, clínicos, conductuales, cognitivos y contextuales, y se estudió su posible relación con el uso del SEM. RESULTADOS: Se incluyeron 311 pacientes. El uso del SEM (n = 171; 55%) se asoció con el pensamiento del paciente de no ser capaz de manejar la situación en el momento de inicio de los síntomas con OR (ajustada) 6,95 (IC 95%: 3,64-13,26), con ser los testigos y no el paciente quienes solicitaran ayuda con OR 5,68 (IC 95%: 2,99-10,83), con presentar un déficit neurológico grave (NIHSS > 16) con OR 4,51 (IC 95%: 1,10-18,46), cuando el paciente solicitó ayuda atendiendo a la gravedad de los síntomas con OR 4,03 (IC 95%: 1,42-11,42) o cuando tenía antecedentes personales de hipertensión arterial OR 2,38 (IC 95%: 1,25-4,54). CONCLUSIONES: La solicitud de asistencia al SEM por parte del paciente o testigos se relaciona con factores objetivos de gravedad del ictus y con la percepción subjetiva de gravedad.

Factores asociados con la activación del servicio de emergencias médicas en el paciente con ictus agudo: un estudio prospectivo / Factors associated with the activation of emergency medical services in patients with acute stroke: a prospective study

Objetivo: Identificar los factores asociados con la activación del servicio de emergencias médicas (SEM) en pacientes que han padecido un ictus. Método: Estudio transversal en el que se incluyeron a todos los pacientes con ictus ingresados en el Hospital Universitario de Burgos (España) entre el 01/09/2015 y el 31/08/2016. Se recogieron datos sociodemográficos, clínicos, conductuales, cognitivos y contextuales, y se estudió su posible relación con el uso del SEM. Resultados: Se incluyeron 311 pacientes. El uso del SEM (n = 171; 55%) se asoció con el pensamiento del paciente de no ser capaz de manejar la situación en el momento de inicio de los síntomas con OR (ajustada) 6,95 (IC 95%: 3,64-13,26), con ser los testigos y no el paciente quienes solicitaran ayuda con OR 5,68 (IC 95%: 2,99-10,83), con presentar un déficit neurológico grave (NIHSS > 16) con OR 4,51 (IC 95%: 1,10-18,46), cuando el paciente solicitó ayuda atendiendo a la gravedad de los síntomas con OR 4,03 (IC 95%: 1,42-11,42) o cuando tenía antecedentes personales de hipertensión arterial OR 2,38 (IC 95%: 1,25-4,54). Conclusión: La solicitud de asistencia al SEM por parte del paciente o testigos se relaciona con factores objetivos de gravedad del ictus y con la percepción subjetiva de gravedad

Objective: To identify factors associated with activation of emergency medical services (EMS) in stroke. Methods: Cross-sectional study of all patients admitted with stroke to Hospital Universitario de Burgos in Spain between September 1, 2015, and August 31, 2016. We recorded sociodemographic, clinical, behavioral, cognitive, and context information and explored possible associations with calls for EMS units. Results: Three hundred eleven patients were included. EMS units were activated in 171 cases (55%) associated with an assessment that the patient was unable to manage the health situation from the onset of symptoms (adjusted odds ratio [OR], 6.95; 95% CI, 3.64-13.26), a witness's call for help (rather than the patient's) (OR, 5.68; 95% CI, 2.99-10.83), serious neurological deficit defined by a score over 16 on the National Institute of Health Stroke Scale (OR, 4.51; 95% CI, 1.10-18.46), a patient's awareness of serious symptoms leading to a call for help (OR, 4.03; 95% CI, 1.42-11.42), and a patient's history of high blood pressure (OR, 2.38; 95% CI, 1.25-4.54). Conclusion: Calls for EMS attendance from either a patient or a witness are associated with objective signs of severe stroke and subjective perception of severity

Mitos y evidencias en el empleo de la toxina botulínica: neurofarmacología y distonías / Myths and evidence on the use of botulinum toxin: neuropharmacology and dystonia

Introducción. La toxina botulínica de tipo A (TBA) ha supuesto una verdadera revolución terapéutica en neurología, y en la actualidad es el tratamiento rutinario en las distonías focales y la espasticidad. Objetivo. Plantear, revisar y responder cuestiones controvertidas en relación con la neurofarmacología de a TBA y su uso en las distonías en la práctica clínica habitual. Desarrollo. Un grupo de expertos en trastornos del movimiento revisó una lista de temas controvertidos relacionados con la farmacología de la TBA y su uso en las distonías. Revisamos la bibliografía e incluimos artículos relevantes especialmente en inglés, pero también, si su importancia lo merece, en castellano y en francés, hasta junio de 2016. El documento se estructuró como un cuestionario que incluyó las preguntas que podrían generar mayor controversia o duda. El borrador inicial del documento fue revisado por los miembros del panel y se realizaron las modificaciones necesarias hasta alcanzar el mayor grado de consenso. Incluimos preguntas sobre diferentes aspectos de la neurofarmacología, especialmente el mecanismo de acción, la bioequivalencia de los diferentes preparados y la inmunogenicidad. En relación con el subapartado de las distonías, se incluyeron aspectos sobre la evaluación y el tratamiento de las distonías focales. Conclusiones. Esta revisión no pretende ser una guía, sino una herramienta práctica destinada a neurólogos y médicos internos residentes interesados en esta área, dentro de diferentes ámbitos específicos del manejo de la TBA (AU)

Introduction. Botulinum toxin type A (BTA) is a bacterial endotoxin, whose therapeutic use has had a dramatic impact on different neurological disorders, such as dystonia and spasticity. Aim. To analyze and summarize different questions about the use of BTA in our clinical practice. Development. A group of experts in neurology developed a list of topics related with the use of BTA. Two groups were considered: neuropharmacology and dystonia. A literature search at PubMed, mainly for English language articles published up to June 2016 was performed. The manuscript was structured as a questionnaire that includes those questions that, according to the panel opinion, could generate more controversy or doubt. The initial draft was reviewed by the expert panel members to allow modifications, and after subsequent revisions for achieving the highest degree of consensus, the final text was then validated. Different questions about diverse aspects of neuropharmacology, such as mechanism of action, bioequivalence of the different preparations, immunogenicity, etc. were included. Regarding dystonia, the document included questions about methods of evaluation, cervical dystonia, blepharospasm, etc. Conclusion. This review does not pretend to be a guide, but rather a tool for continuous training of residents and specialists in neurology, about different specific areas of the management of BTA (AU)

Emergence and Evolution of Cooperation Under Resource Pressure.

We study the influence that resource availability has on cooperation in the context of hunter-gatherer societies. This paper proposes a model based on archaeological and ethnographic research on resource stress episodes, which exposes three different cooperative regimes according to the relationship between resource availability in the environment and population size. The most interesting regime represents moderate survival stress in which individuals coordinate in an evolutionary way to increase the probabilities of survival and reduce the risk of failing to meet the minimum needs for survival. Populations self-organise in an indirect reciprocity system in which the norm that emerges is to share the part of the resource that is not strictly necessary for survival, thereby collectively lowering the chances of starving. Our findings shed further light on the emergence and evolution of cooperation in hunter-gatherer societies.

Lower Cranial Nerves Paralysis Following Prone-Position Mechanical Ventilation.

OBJECTIVE: To communicate a complication of prone-position ventilation. DATA SOURCES: Case history. STUDY SELECTION: Case report. DATA EXTRACTION AND DATA SYNTHESIS: Clinical information from medical record. CONCLUSIONS: This is a very infrequent cause of dysphagia following prone-position ventilation.

Rehabilitation of hemineglect of the left arm using movement detection bracelets activating a visual and acoustic alarm.

BACKGROUND: Hemineglect is frequent after right hemisphere stroke and prevents functional independence, but effective rehabilitation interventions are lacking. Our objective was to determine if a visual-acoustic alarm in the hemineglect arm activated by a certain discrepancy in movement of both hands can enhance neglect arm use in five tasks of daily living. METHODS: In this pre-post intervention study 9 stroke patients with residual hemineglect of the arm were trained for 7 days in five bimanual tasks of daily living: carrying a tray, button fastening, cutting food with knife and fork, washing the face with both hands and arm sway while walking. This was done through motion sensors mounted in bracelets on both wrists that compared movement between them. When the neglect-hand movement was less than a limit established by two fuzzy logic based classifiers, a visual-acoustic alarm in the neglect-hand bracelet was activated to encourage its use in the task. RESULTS: Both motion and function of the neglect hand improved during the seven days of training when visual-acoustic alarms were active but a worsening to baseline values occurred on day 8 and day 30 when alarms where switched off. Improvement was limited to vision-dependent tasks. CONCLUSIONS: Neglect-hand improvement with this approach is limited to bimanual activities in which an object is manipulated under vision control, but no short or long term learning happens.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

BACKGROUND: Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinical, biochemical genetic and in vitro enzymatic data in a cohort of 33 patients. METHODS: Clinical, biochemical and treatment data was obtained from physicians by using a questionnaire. MTHFR activity was measured in primary fibroblasts; genomic DNA was extracted from cultured fibroblasts. RESULTS: Thirty-three patients (mean age at follow-up 11.4 years; four deceased; median age at first presentation 5 weeks; 17 females) were included. Patients with very low (<1.5%) mean control values of enzyme activity (n = 14) presented earlier and with a pattern of feeding problems, encephalopathy, muscular hypotonia, neurocognitive impairment, apnoea, hydrocephalus, microcephaly and epilepsy. Patients with higher (>1.7-34.8%) residual enzyme activity had mainly psychiatric symptoms, mental retardation, myelopathy, ataxia and spasticity. Treatment with various combinations of betaine, methionine, folate and cobalamin improved the biochemical and clinical phenotype. During the disease course, patients with very low enzyme activity showed a progression of feeding problems, neurological symptoms, mental retardation, and psychiatric disease while in patients with higher residual enzyme activity, myelopathy, ataxia and spasticity increased. All other symptoms remained stable or improved in both groups upon treatment as did brain imaging in some cases. No clear genotype-phenotype correlation was obvious. DISCUSSION: MTHFR deficiency is a severe disease primarily affecting the central nervous system. Age at presentation and clinical pattern are correlated with residual enzyme activity. Treatment alleviates biochemical abnormalities and clinical symptoms partially.

Improving human activity recognition and its application in early stroke diagnosis.

The development of efficient stroke-detection methods is of significant importance in today's society due to the effects and impact of stroke on health and economy worldwide. This study focuses on Human Activity Recognition (HAR), which is a key component in developing an early stroke-diagnosis tool. An overview of the proposed global approach able to discriminate normal resting from stroke-related paralysis is detailed. The main contributions include an extension of the Genetic Fuzzy Finite State Machine (GFFSM) method and a new hybrid feature selection (FS) algorithm involving Principal Component Analysis (PCA) and a voting scheme putting the cross-validation results together. Experimental results show that the proposed approach is a well-performing HAR tool that can be successfully embedded in devices.

Inflamación linfocítica crónica con captación perivascular de la protuberancia y respuesta a esteroides (síndrome de CLIPPERS) / Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS syndrome)

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Ultrasonic guided wave propagation across waveguide transitions: energy transfer and mode conversion.

Ultrasonic guided wave inspection of structures containing adhesively bonded joints requires an understanding of the interaction of guided waves with geometric and material discontinuities or transitions in the waveguide. Such interactions result in mode conversion with energy being partitioned among the reflected and transmitted modes. The step transition between an aluminum layer and an aluminum-adhesive-aluminum multi-layer waveguide is analyzed as a model structure. Dispersion analysis enables assessment of (i) synchronism through dispersion curve overlap and (ii) wavestructure correlation. Mode-pairs in the multi-layer waveguide are defined relative to a prescribed mode in a single layer as being synchronized and having nearly perfect wavestructure matching. Only a limited number of mode-pairs exist, and each has a unique frequency range. A hybrid model based on semi-analytical finite elements and the normal mode expansion is implemented to assess mode conversion at a step transition in a waveguide. The model results indicate that synchronism and wavestructure matching is associated with energy transfer through the step transition, and that the energy of an incident wave mode in a single layer is transmitted almost entirely to the associated mode-pair, where one exists. This analysis guides the selection of incident modes that convert into transmitted modes and improve adhesive joint inspection with ultrasonic guided waves.