[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients]. / Espectro fenotípico y genotípico de la distonía causada por el gen KMT2B. Descripción de tres casos colombianos.

INTRODUCTION: KMT2B-related dystonia is a childhood-onset movement disorder characterized by focal dystonia of the lower extremities progressing to generalized dystonia with predominant cervical, cranial, and laryngeal involvement. So far, fewer than 100 variants have been reported, the vast majority being de novo mutations. The presenting frame of KMT2B dystonia, with dysmorphology features and other complex neurologic symptoms shows the spectrum of KMT2B dystonia as a probable syndromic disease, rather than an isolated early-onset dystonia, which has been the classic view of the condition. CASE REPORTS: We report three patients who presented regression in their neurodevelopment, focal dystonia of the lower limbs with subsequent generalization, in whom two de novo variants were reported in the KMT2B gene, with a mean age of presentation lower than the average reported worldwide. CONCLUSIONS: We describe the largest local series of patients with KMT2B dystonia in Colombia (to our knowledge), which allows us to expand the genotype-phenotype relationship of this genetic dystonia. Although many affected individuals follow a similar disease course, it is important to determine clinical features that may be associated such as neurodevelopmental regression.

TITLE: Espectro fenotípico y genotípico de la distonía causada por el gen KMT2B. Descripción de tres casos colombianos.Introducción. La distonía relacionada con KMT2B es un trastorno del movimiento hipercinético, de inicio en la infancia, caracterizado inicialmente por distonía focal de las extremidades inferiores que progresa a una distonía generalizada con mayor afectación cervical, craneal y laríngea. Hasta el momento se han descrito aproximadamente 100 variantes causantes de enfermedad, y la mayoría son de novo. La presentación clínica de la distonía con hallazgos fenotípicos comunes en los pacientes, asociada a frecuente afectación del neurodesarrollo, afectación intelectual y otros trastornos del movimiento, hace pensar más en el espectro KMT2B como una condición sindrómica, más que en una distonía aislada de inicio temprano, como clásicamente se ha clasificado. Casos clínicos. Se presenta el caso de tres pacientes con regresión del neurodesarrollo, distonía focal de los miembros inferiores con posterior generalización, en quienes se identificaron tres variantes en el gen KMT2B, en dos de los casos de novo (en una de ellas se desconoce la segregación), y dos de ellas comunicadas por primera vez en la bibliografía. La edad media de presentación fue menor a la edad promedio notificada a nivel mundial. Conclusiones. Describimos una serie de pacientes colombianos con distonía DYT-KMT2B (la más grande en nuestro conocimiento a nivel local), lo que nos permite ampliar la relación genotipo-fenotipo de esta distonía genética. Si bien múltiples individuos afectados siguen un curso de enfermedad similar, es importante determinar las características clínicas que pueden estar asociadas, como la regresión del neurodesarrollo y su potencial clasificación como distonía compleja. Describimos, además, dos nuevas variantes asociadas al fenotipo.

Vacunación contra el SARS-CoV-2 en pacientes pediátricos con epilepsia: experiencia de un centro terciario en Colombia / SARS-CoV-2 vaccination in paediatric patients with epilepsy: experience of a tertiary center in Colombia

Objetivo: El objetivo de este estudio es evaluar los efectos de la vacunación contra el SARS-CoV-2 sobre el patrón convulsivo en pacientes pediátricos con epilepsia que acudieron a nuestro centro terciario en la ciudad de Bogotá, Colombia. Pacientes y métodos: Se pidió a los niños con epilepsia que fueron tratados en nuestro centro y que habían recibido la vacuna contra el SARS-CoV-2 y a sus cuidadores que informaran de su experiencia después de la vacunación. Se documentaron la edad, el sexo, la edad de inicio de la epilepsia, la duración de la epilepsia, el tipo de epilepsia, la frecuencia de las convulsiones, el número de medicamentos, el tiempo transcurrido desde la última crisis, los esquemas de vacunación y las convulsiones dos semanas después de la vacunación. Resultados: Se incluyó a 101 pacientes con epilepsia (58%, hombres; y 42%, mujeres). La edad promedio fue de 11 años, el 73% tenía epilepsia focal, y el 27%, generalizada. Veintiuno cumplían los criterios para la epilepsia refractaria y 11 tenían antecedentes personales de convulsiones febriles. Cuarenta y siete pacientes habían sido vacunados con la vacuna de Sinovac; 41, con Pfizer; 12, con Moderna; y uno, con CoronaVac. Tres pacientes presentaron convulsiones 24 horas después de la aplicación de la vacuna sin una relación clara entre la vacunación y la frecuencia de las convulsiones, y un paciente requirió ingreso en el hospital por una convulsión prolongada. Conclusión: La vacunación contra el SARS-CoV-2 en pacientes pediátricos con epilepsia es segura. Aproximadamente el 3% de los pacientes con epilepsia podría eventualmente tener convulsiones en el período posterior a la vacunación.

Aim: The objective of this study is to evaluate effects of SARS-CoV-2 vaccination on seizure pattern in paediatric patients with epilepsy that attended our tertiary center in the city of Bogotá, Colombia. Patients and methods: Children with epilepsy who were treated at our center and have had SARS-CoV-2 vaccination and their caregivers were asked to report their experience following vaccination. We documented age, sex, age at onset of epilepsy, duration of epilepsy, epilepsy type, seizure frequency, number of medications, time from last crisis, vaccination schemes, and seizures two weeks after vaccination. Results: One hundred and one patients with epilepsy were included (58%, male; and 42%, female). The average age was 11 years, 73% had focal epilepsy, and 27%, generalized. Twenty-one fulfilled criteria for refractory epilepsy and 11 had a personal history of febrile seizures. Forty-seven patients had been vaccinated with Sinovac’s vaccine; 41 patients, with Pfizer’s; 12 patients, with Moderna’s; and one, with CoronaVac’s. Three patients presented seizures 24 hours after the application of the vaccine with no clear relation between vaccination and seizure frequency, and one patient required admission to the hospital for a prolonged seizure. Conclusion: Vaccination against SARS-CoV-2 in paediatric patients with epilepsy is safe. Approximately 3% of patients with epilepsy could eventually have seizures in the post-vaccination period.(AU)

SARS-CoV-2 vaccination in paediatric patients with epilepsy: experience of a tertiary center in Colombia. / Vacunación contra el SARS-CoV-2 en pacientes pediátricos con epilepsia: experiencia de un centro terciario en Colombia.

AIM: The objective of this study is to evaluate effects of SARS-CoV-2 vaccination on seizure pattern in paediatric patients with epilepsy that attended our tertiary center in the city of Bogota, Colombia. PATIENTS AND METHODS: Children with epilepsy who were treated at our center and have had SARS-CoV-2 vaccination and their caregivers were asked to report their experience following vaccination. We documented age, sex, age at onset of epilepsy, duration of epilepsy, epilepsy type, seizure frequency, number of medications, time from last crisis, vaccination schemes, and seizures two weeks after vaccination. RESULTS: One hundred and one patients with epilepsy were included (58%, male; and 42%, female). The average age was 11 years, 73% had focal epilepsy, and 27%, generalized. Twenty-one fulfilled criteria for refractory epilepsy and 11 had a personal history of febrile seizures. Forty-seven patients had been vaccinated with Sinovac's vaccine; 41 patients, with Pfizer's; 12 patients, with Moderna's; and one, with CoronaVac's. Three patients presented seizures 24 hours after the application of the vaccine with no clear relation between vaccination and seizure frequency, and one patient required admission to the hospital for a prolonged seizure. CONCLUSION: Vaccination against SARS-CoV-2 in paediatric patients with epilepsy is safe. Approximately 3% of patients with epilepsy could eventually have seizures in the post-vaccination period.

TITLE: Vacunación contra el SARS-CoV-2 en pacientes pediátricos con epilepsia: experiencia de un centro terciario en Colombia.Objetivo. El objetivo de este estudio es evaluar los efectos de la vacunación contra el SARS-CoV-2 sobre el patrón convulsivo en pacientes pediátricos con epilepsia que acudieron a nuestro centro terciario en la ciudad de Bogotá, Colombia. Pacientes y métodos. Se pidió a los niños con epilepsia que fueron tratados en nuestro centro y que habían recibido la vacuna contra el SARS-CoV-2 y a sus cuidadores que informaran de su experiencia después de la vacunación. Se documentaron la edad, el sexo, la edad de inicio de la epilepsia, la duración de la epilepsia, el tipo de epilepsia, la frecuencia de las convulsiones, el número de medicamentos, el tiempo transcurrido desde la última crisis, los esquemas de vacunación y las convulsiones dos semanas después de la vacunación. Resultados. Se incluyó a 101 pacientes con epilepsia (58%, hombres; y 42%, mujeres). La edad promedio fue de 11 años, el 73% tenía epilepsia focal, y el 27%, generalizada. Veintiuno cumplían los criterios para la epilepsia refractaria y 11 tenían antecedentes personales de convulsiones febriles. Cuarenta y siete pacientes habían sido vacunados con la vacuna de Sinovac; 41, con Pfizer; 12, con Moderna; y uno, con CoronaVac. Tres pacientes presentaron convulsiones 24 horas después de la aplicación de la vacuna sin una relación clara entre la vacunación y la frecuencia de las convulsiones, y un paciente requirió ingreso en el hospital por una convulsión prolongada. Conclusión. La vacunación contra el SARS-CoV-2 en pacientes pediátricos con epilepsia es segura. Aproximadamente el 3% de los pacientes con epilepsia podría eventualmente tener convulsiones en el período posterior a la vacunación.

Rapid quasi-periodic oscillations in the relativistic jet of BL Lacertae.

Blazars are active galactic nuclei (AGN) with relativistic jets whose non-thermal radiation is extremely variable on various timescales1-3. This variability seems mostly random, although some quasi-periodic oscillations (QPOs), implying systematic processes, have been reported in blazars and other AGN. QPOs with timescales of days or hours are especially rare4 in AGN and their nature is highly debated, explained by emitting plasma moving helically inside the jet5, plasma instabilities6,7 or orbital motion in an accretion disc7,8. Here we report results of intense optical and γ-ray flux monitoring of BL Lacertae (BL Lac) during a dramatic outburst in 2020 (ref. 9). BL Lac, the prototype of a subclass of blazars10, is powered by a 1.7 × 108 MSun (ref. 11) black hole in an elliptical galaxy (distance = 313 megaparsecs (ref. 12)). Our observations show QPOs of optical flux and linear polarization, and γ-ray flux, with cycles as short as approximately 13 h during the highest state of the outburst. The QPO properties match the expectations of current-driven kink instabilities6 near a recollimation shock about 5 parsecs (pc) from the black hole in the wake of an apparent superluminal feature moving down the jet. Such a kink is apparent in a microwave Very Long Baseline Array (VLBA) image.

Vericiguat en insuficiencia cardíaca: de la evidencia científica a la práctica clínica / Vericiguat in heart failure: from scientific evidence to clinical practice

A pesar de los tratamientos actuales, el riesgo de muerte y hospitalizaciones en pacientes con insuficiencia cardíaca con fracción de eyección reducida (IC-FEr) sigue siendo elevado. La fisiopatología de la IC-FEr incluye activación neurohormonal caracterizada por la estimulación de las vías deletéreas (sistemas simpático y renina-angiotensina-aldosterona) y la supresión de las vías protectoras como las dependientes del óxido nítrico. La inhibición o estimulación de algunas de estas vías, pero no de todas, es insuficiente. En la IC-FEr existe una menor actividad de óxido nítrico, guanilato ciclasa soluble y GMPc que provoca efectos deletéreos a nivel miocárdico, vascular y renal. Vericiguat estimula la actividad de esta vía protectora. El estudio VICTORIA demostró, en pacientes con IC-FEr y descompensación reciente, que la adición de vericiguat al tratamiento médico óptimo reducía de forma significativa la incidencia del objetivo primario compuesto de muerte cardiovascular u hospitalización por IC, con un número de 24 pacientes que es necesario tratar, y una excelente tolerabilidad (AU)

Despite currently available treatments, risk of death and hospitalizations in patients with heart failure with reduced ejection fraction (HFrEF) remains high. The pathophysiology of HFrEF includes neurohormonal activation characterized by stimulation of deleterious pathways (i.e., sympathetic nervous and renin-angiotensin-aldosterone systems) and suppression of protective pathways such as nitric oxide-dependent pathways. Inhibition or stimulation of some, but not all, of these pathways is insufficient. In HFrEF, there is reduced nitric oxide, soluble guanylate cyclase, and cGMP activity, leading to deleterious effects in the myocardial, vascular, and renal systems. Vericiguat is able to stimulate the activity of this protective pathway. The VICTORIA study demonstrated that the addition of vericiguat to optimal medical treatment in patients with HFrEF and recent decompensation significantly reduced the incidence of the primary endpoint, a composite of cardiovascular death or HF hospitalization, with a number needed to treat of 24 patients and excellent tolerability (AU)

Vericiguat in heart failure: From scientific evidence to clinical practice.

Despite currently available treatments, risk of death and hospitalizations in patients with heart failure with reduced ejection fraction (HFrEF) remains high. The pathophysiology of HFrEF includes neurohormonal activation characterized by stimulation of deleterious pathways (i.e., sympathetic nervous and renin-angiotensin-aldosterone systems) and suppression of protective pathways such as nitric oxide-dependent pathways. Inhibition or stimulation of some, but not all, of these pathways is insufficient. In HFrEF, there is reduced nitric oxide, soluble guanylate cyclase, and cGMP activity, leading to deleterious effects in the myocardial, vascular, and renal systems. Vericiguat is able to stimulate the activity of this protective pathway. The VICTORIA study demonstrated that the addition of vericiguat to optimal medical treatment in patients with HFrEF and recent decompensation significantly reduced the incidence of the primary endpoint, a composite of cardiovascular death or HF hospitalization, with a number needed to treat of 24 patients and excellent tolerability.

[Comparison of surgical techniques for rotator cuff injury: cost-result]. / Comparación de técnicas quirúrgicas para la lesión del manguito de los rotadores: costo-resultado.

INTRODUCTION: Currently, to manage rotator cuff injury (RCI), there is a tendency to replace mini-open (MO) surgery with arthroscopy, but results and costs are controversial. OBJECTIVE: To analyze the cost-result of surgical techniques for RCI. MATERIAL AND METHODS: A partial economic evaluation of cost-result type was performed on 113 patients with RCI surgically operated by mini-open technique (n = 6), or arthroscopy (n = 91), or both (n = 16). Direct costs included: hospital stay, days of work disability, surgery, implants (anchors), medical assessments, laboratory and imaging. One-year shoulder functionality was evaluated with Constant-Murley scale (EscC-M). RESULTS: The MO technique was the most economical (X = $42,950.60 MXN) and the most expensive was the arthroscopy + MO with anchors (X = $89,594.80 MXN); with a non-significant difference in shoulder functionality (EscC-M = 56.33 ± 7.0 vs. 64.25 ± 9.0 points, respectively) (p 0.05; Kruskal-Wallis; post hoc Mann-Whitney). Difference of $46,644.1 MXN between techniques corresponded to 7.92 points. There was a mild relationship between the technique and the functionality of shoulder (rs = 0.26; p = 0.005; Spearman). CONCLUSION: The mini-open technique showed best cost-result, with similar functionality in shoulder to that obtained with the more expensive technique.

INTRODUCCIÓN: Actualmente, para manejar la ruptura del manguito de los rotadores (LMR), se prefiere la artroscopía sobre técnicas abiertas (mini-open [MO]), con resultados y costos controversiales. OBJETIVO: Analizar el costo-resultado de las técnicas quirúrgicas para la LMR. MATERIAL Y MÉTODOS: Se realizó una evaluación económica parcial de tipo costo-resultado a 113 pacientes con LMR intervenidos mediante técnica mini-open (n = 6) o artroscopía (n = 91) o ambas (n = 16). Los costos directos incluyeron: estancia, días de incapacidad laboral, cirugía, implantes (anclas), valoraciones médicas, laboratorio e imagen. Se evaluó la funcionalidad del hombro a un año mediante la escala de Constant-Murley (EscC-M). RESULTADOS: La técnica MO fue la más económica (X = $42,950.60 MXN) y la más costosa fue la artroscopía + MO con anclas (X = $89,594.80 MXN); con una diferencia no significativa en la funcionalidad del hombro (EscC-M = 56.33 ± 7 vs 64.25 ± 9 puntos, respectivamente) (p 0.05; Kruskal-Wallis; post hoc Mann-Whitney). Una diferencia de $46,644.10 MXN entre técnicas correspondió a 7.92 puntos. Hubo relación leve entre la técnica y la funcionalidad del hombro (rs = 0.26; p = 0.005; Spearman). CONCLUSIÓN: La técnica mini-open mostró mejor costo-resultado, con una ganancia en la funcionalidad de hombro similar a la que se obtiene con la técnica más costosa.

Immediate treatment of acute HIV in a tertiary healthcare center: bridging gaps in communication using smartphones.

OBJECTIVES: Early initiation of antiretroviral therapy (ART) during acute HIV infection is associated with favourable clinical and epidemiological outcomes. Barriers to prompt treatment initiation limit the benefits of universal access to ART in Mexico. We sought to create an algorithm for the immediate detection and treatment of patients with acute HIV infection. METHODS: A nationwide cohort of patients with acute HIV infection was created in 2015. In order to identify cases and treat them promptly at our centre, an interdisciplinary group coordinated through an instant-messaging tool using smart phones was established. When a probable case was detected, a discussion was initiated to confirm the diagnosis and facilitate the administrative processes to initiate ART as soon as possible. We compared time to ART initiation with that in a comparison group of patients with chronic HIV infection enrolled during the same period (May 2015 to February 2017) through routine care, using survival analysis estimators and log-rank tests. RESULTS: We recruited 29 patients with acute HIV infection. The median time to ART initiation was 2 days in these patients, in contrast to 21 days for patients with chronic infection. There were no significant differences in the percentages of patients engaged in care, on treatment or virologically suppressed at 1 year of follow-up. CONCLUSIONS: Implementing immediate ART initiation programmes is feasible in Mexico, in spite of the substantial administrative barriers that exist in the country. More extensive replication of this model in other centres and in patients with chronic infection is warranted to evaluate its effect on the continuum of care.

Metallaaromatic biaryl atropisomers.

Synthesis of stable irida-binaphthyl and -phenanthryl complexes, the first examples of metallaaromatic biaryl atropisomers, has been achieved. The combination of experimental and theoretical studies revealed that the nature of these systems is comparable to that of well-known 1,1'-binaphthalene both in terms of aromaticity and atropisomerism.

Device-Compatible Chiroptical Surfaces through Self-Assembly of Enantiopure Allenes.

Chiroptical methods have been proven to be superior compared to their achiral counterparts for the structural elucidation of many compounds. To expand the use of chiroptical systems to everyday applications, the development of functional materials exhibiting intense chiroptical responses is essential. Particularly, tailored and robust interfaces compatible with standard device operation conditions are required. Herein, we present the design and synthesis of chiral allenes and their use for the functionalization of gold surfaces. The self-assembly results in a monolayer-thin room-temperature-stable upstanding chiral architecture as ascertained by ellipsometry, X-ray photoelectron spectroscopy, and near-edge X-ray absorption fine structure. Moreover, these nanostructures anchored to device-compatible substrates feature intense chiroptical second harmonic generation. Both straightforward preparation of the device-compatible interfaces along with their chiroptical nature provide major prospects for everyday applications.

Blazar spectral variability as explained by a twisted inhomogeneous jet.

Blazars are active galactic nuclei, which are powerful sources of radiation whose central engine is located in the core of the host galaxy. Blazar emission is dominated by non-thermal radiation from a jet that moves relativistically towards us, and therefore undergoes Doppler beaming. This beaming causes flux enhancement and contraction of the variability timescales, so that most blazars appear as luminous sources characterized by noticeable and fast changes in brightness at all frequencies. The mechanism that produces this unpredictable variability is under debate, but proposed mechanisms include injection, acceleration and cooling of particles, with possible intervention of shock waves or turbulence. Changes in the viewing angle of the observed emitting knots or jet regions have also been suggested as an explanation of flaring events and can also explain specific properties of blazar emission, such as intra-day variability, quasi-periodicity and the delay of radio flux variations relative to optical changes. Such a geometric interpretation, however, is not universally accepted because alternative explanations based on changes in physical conditions-such as the size and speed of the emitting zone, the magnetic field, the number of emitting particles and their energy distribution-can explain snapshots of the spectral behaviour of blazars in many cases. Here we report the results of optical-to-radio-wavelength monitoring of the blazar CTA 102 and show that the observed long-term trends of the flux and spectral variability are best explained by an inhomogeneous, curved jet that undergoes changes in orientation over time. We propose that magnetohydrodynamic instabilities or rotation of the twisted jet cause different jet regions to change their orientation and hence their relative Doppler factors. In particular, the extreme optical outburst of 2016-2017 (brightness increase of six magnitudes) occurred when the corresponding emitting region had a small viewing angle. The agreement between observations and theoretical predictions can be seen as further validation of the relativistic beaming theory.

[Efficacy of a dynamic orthosis on the upper limbs in the chronic phase of strokes. A longitudinal study]. / Eficacia de la ortesis dinamica del miembro superior en la fase cronica del ictus. Estudio longitudinal.

AIMS: Stroke is the most important medical condition leading to permanent disability in adults. The aim of this study is to evaluate the efficacy of dynamic orthoses in the rehabilitation of the upper limbs in patients who have had a stroke. PATIENTS AND METHODS: We conducted a longitudinal case-control study. The sample used in the study consisted of patients from rehabilitation centres who presented hemiparesis secondary to an ischaemic or haemorrhagic stroke. The patients were randomly distributed into a study group, whose members received a dynamic orthosis on an upper limb for a six-month period, and a control group. Appraisals were performed pre- and post-treatment with the orthosis with Fugl-Meyer Assessment Scale and with Wolf Motor Function to measure their command over body functions and activities. Differences between pre- and post-test were compared using ANCOVA and Student's t. RESULTS: The sample included 40 patients (65% males) who presented chronic hemiparesis secondary to ischaemic (n = 28) or haemorrhagic stroke (n = 12), with a mean age of 58.43 ± 8.67 years. After the six-month follow-up, improved motor function was observed in both groups, according to both scales. The use of a dynamic orthosis was associated with a tendency towards improved strength in the upper limb. CONCLUSIONS: Rehabilitation following a stroke improves strength and body activities in the upper limb. The use of a dynamic orthosis can further improve the strength in this limb, but additional research is needed to confirm our results.

TITLE: Eficacia de la ortesis dinamica del miembro superior en la fase cronica del ictus. Estudio longitudinal.Objetivo. El ictus es la condicion medica mas importante que origina discapacidad permanente en el adulto. El objetivo es valorar la eficacia de ortesis dinamicas en la rehabilitacion del miembro superior en pacientes que han presentado un ictus. Pacientes y metodos. Estudio longitudinal de casos y controles. Se incluyo una muestra de pacientes procedentes de centros de rehabilitacion que presentaban hemiparesia secundaria a ictus isquemico o hemorragico. De forma aleatoria, los pacientes fueron distribuidos en un grupo de estudio, cuyos miembros recibieron una ortesis dinamica en el miembro superior durante seis meses, y un grupo control. Se realizaron valoraciones pre y postratamiento con la ortesis con la Fugl-Meyer Assessment Scale y con la Wolf Motor Function para medir los dominios de las funciones y actividades corporales. Se compararon las diferencias entre pre y postest usando ANCOVA y t de Student. Resultados. Se incluyo a 40 pacientes (65% hombres) que presentaban una hemiparesia cronica secundaria a ictus isquemico (n = 28) o hemorragico (n = 12), con una edad media de 58,43 ± 8,67 años. Tras el seguimiento de seis meses, se observo una mejoria en ambos grupos en la funcion motora segun ambas escalas. El uso de la ortesis dinamica se asocio a una tendencia hacia la mejoria en la fuerza de la extremidad superior. Conclusiones. La rehabilitacion tras el ictus mejora la fuerza y las actividades corporales en el miembro superior. El uso de una ortesis dinamica puede adicionalmente mejorar la fuerza en este miembro, pero se necesitan mas estudios para confirmar nuestros resultados.

Aortic stenosis. Indications and results of percutaneous aortic valve implantation (TAVI). / Estenosis aórtica. Indicaciones y resultados del implante de válvula aórtica percutánea (TAVI).

Aortic stenosis (AS) is the most common valvular heart disease in developed countries. Its prevalence increases progressively due the aging of the population. Transcatheter aortic valve implantation (TAVI), however, has revolutionised the treatment of AS. With the current data, we can confirm that TAVI is the treatment of choice for patients with severe symptomatic AS considered inoperable or with high surgical risk. In recent years, the use of TAVI has grown exponentially and is spreading to patients of intermediate surgical risk due to the procedure's good results, the reduced number of complications and the low incidence of prosthetic degeneration. The results appear to indicate that, in the medium term, TAVI will progressively substitute conventional surgery for treating most patients with severe AS.

NMR signal enhancement of >50 000 times in fast dissolution dynamic nuclear polarization.

Herein, we report the synthesis and the study of a novel mixed biradical with BDPA and TEMPO radical units that are covalently bound by an ester group (BDPAesterTEMPO) as a polarizing agent for fast dissolution DNP. The biradical exhibits an extremely high DNP NMR enhancement of >50 000 times, which constitutes one of the largest signal enhancements observed so far, to the best of our knowledge.

[Quality of life in children and adolescents with autism spectrum disorder without intellectual disability]. / Calidad de vida en niños y adolescentes con trastorno del espectro autista sin discapacidad intelectual.

INTRODUCTION: The concept of quality of life is of great importance for interventions directed at people living with disabilities. It is undeniable that the achievement of a satisfactory quality of life should be the objective of clinical interventions that are directed at the group of people with autism spectrum disorder (ASD) and should be a key element in the design of the treatments that are needed to improve the prognosis of future development. Nevertheless, knowledge of both the objective and the subjective conditions that predict greater quality of life satisfaction in people with ASD is still very limited. AIM: To explore the perception of the quality of life experienced by a group of children and adolescents with ASD without intellectual disability. PATIENTS AND METHODS: A sample of 12 children and 11 adolescents with ASD without intellectual disability. In accordance with their age, they were administered the corresponding quality of life questionnaires. RESULTS: Both groups reported positively on their quality of life, without any differences in the basic dimensions. Nevertheless, in the case of adolescents, very low scores were obtained in the area of self-determination in comparison with their scores in other areas. CONCLUSIONS: The discussion centers on the identification of the most relevant dimensions for quality of life, the implications for intervention, and the need to adapt the methodologies in use for the subjective evaluation of those factors, due to the characteristics of ASD that can affect the capabilities necessary for the evaluation of personal experience, and may require the adaptation of the procedures that are employed.

TITLE: Calidad de vida en niños y adolescentes con trastorno del espectro autista sin discapacidad intelectual.Introduccion. El concepto de calidad de vida tiene gran importancia en la intervencion dirigida a las personas con discapacidad. Resulta indiscutible que el alcance de una calidad de vida satisfactoria debe ser el objetivo de las intervenciones clinicas dirigidas al colectivo de personas con trastorno del espectro autista (TEA), y un elemento clave para diseñar los tratamientos necesarios que mejoren el pronostico de desarrollo futuro. A pesar de ello, el conocimiento sobre las condiciones objetivas y subjetivas que predicen una mayor satisfaccion en las personas con TEA es aun muy limitado. Objetivo. Explorar la percepcion de la calidad de vida que experimenta un grupo de niños y adolescentes con TEA sin discapacidad intelectual asociada. Pacientes y metodos. Muestra de 12 niños y 11 adolescentes con TEA sin discapacidad intelectual asociada. Dependiendo de la edad, se les aplico el cuestionario de calidad de vida especifico. Resultados. Ambos grupos informan positivamente sobre su calidad, sin que existan diferencias en las dimensiones basicas. No obstante, en el caso de los adolescentes se obtienen puntuaciones mas bajas en el area de autodeterminacion en comparacion con las demas. Conclusiones. La discusion se centra en la identificacion de las dimensiones mas relevantes para la calidad de vida, las implicaciones para la intervencion y la necesidad de adecuar las metodologias empleadas para la evaluacion subjetiva de estos factores, debido a que las caracteristicas de los TEA pueden alterar las habilidades necesarias para la valoracion de la experiencia personal y requerir la adaptacion de los procedimientos empleados.

The effects of physical exercise in children with attention deficit hyperactivity disorder: a systematic review and meta-analysis of randomized control trials.

OBJECTIVE: The aim of this systematic review and meta-analysis was to examine the evidence for the effectiveness of exercise interventions on attention deficit hyperactivity disorder (ADHD)-related symptoms such as inattention, hyperactivity/impulsivity, anxiety and cognitive functions in children and adolescents. METHOD: Five databases covering the period up to November 2014 (PubMed, Scopus, EMBASE, EBSCO [E-journal, CINAHL, SportDiscus] and The Cochrane Library) were searched. Methodological quality was assessed using the Cochrane tool of bias. Standardized mean differences (SMD) and 95% confidence intervals were calculated, and the heterogeneity of the studies was estimated using Cochran's Q-statistic. RESULTS: Eight randomized controlled trials (n = 249) satisfied the inclusion criteria. The studies were grouped according to the intervention programme: aerobic and yoga exercise. The meta-analysis suggests that aerobic exercise had a moderate to large effect on core symptoms such as attention (SMD = 0.84), hyperactivity (SMD = 0.56) and impulsivity (SMD = 0.56) and related symptoms such as anxiety (SMD = 0.66), executive function (SMD = 0.58) and social disorders (SMD = 0.59) in children with ADHD. Yoga exercise suggests an improvement in the core symptoms of ADHD. CONCLUSIONS: The main cumulative evidence indicates that short-term aerobic exercise, based on several aerobic intervention formats, seems to be effective for mitigating symptoms such as attention, hyperactivity, impulsivity, anxiety, executive function and social disorders in children with ADHD.

A benzyl alcohol derivative of the BDPA radical for fast dissolution dynamic nuclear polarization NMR spectroscopy.

The synthesis, structural characterization and the successful application of a carbon centered radical derived from 1,3-bisdiphenylene-2-phenylallyl (BDPA), its benzyl alcohol derivative (BA-BDPA), as a polarizing agent for Dynamic Nuclear Polarization (DNP) are described. The reported BA-BDPA radical meets all the requirements to become a promising candidate for its use in in vivo DNP-NMR experiments: it is soluble in neat [1-(13)C]pyruvic acid, insoluble in the dissolution transfer solvent and is effective as a polarizing agent in fast dissolution DNP-NMR applications, without the need for using glassing agents. Moreover, it enables a simple but effective in-line radical filtration to obtain hyperpolarized solutions of [1-(13)C]pyruvic acid free of radicals that offers a better polarization performance.

Implicaciones del uso de órtesis dinámicas en la mejora de la calidad de vida de los pacientes con ictus / Implications of using dynamic orthoses in the improvement of the quality of life for patients with stroke

Objetivo: Estudiar la eficacia de las ortésis dinámicas en la mejora funcional y calidad de vida en personas con discapacidad. Material y método: Se realizó un estudio de 40 pacientes con daño cerebral adquirido por diversos motivos, principalmente por ictus. Tras una primera valoración se confeccionaron ortésis dinámicas a medida. La utilización de las mismas se estableció en un periodo de tres meses con uso diurno. Tras completar el tratamiento se procedió a una segunda evaluación. Se utilizó una metodología que contempla grupo control y grupo experimental. Las escalas utilizadas fueron la Fugl-Meyer Assessment Scale y la escala Wolf Motor Function. El tiempo medio por valoración y usuario fue aproximadamente de una hora. Resultados: Tras la valoración una vez finalizado el tratamiento con órtesis, se encontraron diferencias significativas en todos los sujetos independientemente de que pertenecieran al grupo control o al grupo experimental, aunque no se apreciaron diferencias significativas entre los grupos, registrándose mejorías en ambos. Conclusión: El tratamiento con órtesis dinámicas en personas que han sufrido daño cerebral mejora los síntomas de éstas. Sin embargo, es difícil precisar hasta qué punto, la mejoría es debida a la utilización de las órtesis o a la evolución propia de la enfermedad (AU)

Objective: To study the effectiveness of dynamic orthoses on functional improvement and quality of life of people with disabilities. Material and method: We carried out a study with 40 acquired brain injury patients. The injury was due to various reasons, mainly to stroke. After an initial assessment, custom-fitted dynamic orthoses were produced for each patient. We set the use of it for a period of three months for daytime wear. After completing treatment we proceeded to a second assesment. We used a methodology that considers control and experimental group. The scales used were the Fugl -Meyer Assessment Scale and the Wolf Motor Function scale. The average time for assessment for each user is approximately one hour. Results: In the assessment after treatment with orthoses, significant differences in all subjects regardless of whether they belonged to the control group or the experimental group were found. Although, no significant differences between groups were appreciated, finding improvements in both of them. Conclusion: Treatment with dynamic orthoses in people that have suffered brain damage improves symptoms of it. However, it is difficult to determine whether the improvement is due to the use of orthoses or to the evolution of the disease (AU)

Female rats exposed to stress and alcohol show impaired memory and increased depressive-like behaviors.

Exposure to daily life stressors is associated with increases in anxiety, depression, and overall negative affect. Alcohol or other psychoactive drugs are often used to alleviate stress effects. While females are more than twice as likely to develop mood disorders and are more susceptible to dependency than males, they are infrequently examined. In this study, female rats received no stress/no alcohol control (CON), alcohol alone (ALC), stress alone (STR), or stress plus alcohol (STR+ALC). Stress consisted of restraint for 6h/day/7days, and alcohol was administered immediately following restraint via gastric gavage at a dose of 2.0g/kg. Dependent measures included tests utilizing object recognition (OR), Y-maze, elevated plus maze (EPM), forced swim (FST), blood alcohol content, corticosterone levels, and body weights. ALC, STR+ALC, but not stress alone, impaired memory on OR. All treatments impaired spatial memory on the Y-maze. Anxiety was not affected on the EPM, but rats treated with alcohol or in combination with stress showed increased immobility on the FST, suggestive of alcohol-induced depression. Previously, we found alcohol reversed deleterious effects of stress on memory and mood in males, but current results show that females reacted negatively when the two treatments were combined. Thus, responses to alcohol, stress and their combination suggest that sex specific treatments are needed for stress-induced behavioral changes and that self-medicating with alcohol to cope with stress maybe deleterious in females.