Resultados de la ablación con catéter con mínimo o nulo empleo de fluoroscopia en pacientes pediátricos con taquiarritmias supraventriculares / Results of catheter ablation with zero or near zero fluoroscopy in pediatric patients with supraventricular tachyarrhythmias

Introducción y objetivos: La exposición a radiación ionizante en los procedimientos de ablación conlleva riesgos para la salud, sobre todo en pacientes pediátricos. Nuestro objetivo es comparar la seguridad y la eficacia de la ablación guiada por un sistema de navegación intracardiaca no fluoroscópica (SNINF) con las de la ablación guiada exclusivamente por fluoroscopia en pacientes pediátricos. Métodos: Se analizaron los resultados de la ablación con catéter en pacientes pediátricos con vías accesorias de riesgo o taquicardias supraventriculares remitidos a nuestro centro en un periodo de 6 años. Se compararon los procedimientos guiados solo por fluoroscopia (grupo A) y los guiados por SNINF (grupo B). Resultados: Se analizaron 120 procedimientos de ablación en 110 pacientes (edad, 11±3,2 años; el 70% varones), 62 procedimientos en el grupo A y 58 en el grupo B. No se encontraron diferencias significativas entre ambos grupos en éxito del procedimiento (el 95% del grupo A y el 93,5% del grupo B; p=0,53), complicaciones (el 1,7 frente al 1,6%; p=0,23) y recurrencia (el 7,3 frente al 6,9%; p=0,61). Sin embargo, el tiempo de fluoroscopia (mediana, 1,1 frente a 12 min; p<0,0005) y el tiempo de ablación (mediana, 96,5 frente a 133,5 s; p=0,03) fueron menores en el grupo B. La presencia de cardiopatía se comportó como un predictor independiente de recurrencia (p=0,03). Conclusiones: El SNINF para guiar los procedimientos de ablación en pacientes pediátricos reduce el tiempo de exposición a la radiación ionizante. Su empleo generalizado en las ablaciones pediátricas podría reducir el riesgo atribuido a la radiación (AU)

Introduction and objectives: Ionizing radiation exposure in catheter ablation procedures carries health risks, especially in pediatric patients. Our aim was to compare the safety and efficacy of catheter ablation guided by a nonfluoroscopic intracardiac navigation system (NFINS) with those of an exclusively fluoroscopy-guided approach in pediatric patients. Methods: We analyzed catheter ablation results in pediatric patients with high-risk accessory pathways or supraventricular tachycardia referred to our center during a 6-year period. We compared fluoroscopy-guided procedures (group A) with NFINS guided procedures (group B). Results: We analyzed 120 catheter ablation procedures in 110 pediatric patients (11±3.2 years, 70% male); there were 62 procedures in group A and 58 in group B. We found no significant differences between the 2 groups in procedure success (95% group A vs 93.5% group B; P=.53), complications (1.7% vs 1.6%; P=.23), or recurrences (7.3% vs 6.9%; P = .61). However, fluoroscopy time (median 1.1minutes vs 12minutes; P <.0005) and ablation time (median 96.5seconds vs 133.5seconds; P=.03) were lower in group B. The presence of structural heart disease was independently associated with recurrence (P=.03). Conclusions: The use of NFINS to guide catheter ablation procedures in pediatric patients reduces radiation exposure time. Its widespread use in pediatric ablations could decrease the risk of ionizing radiation (AU)

Aplicaciones móviles en la enfermedad de Parkinson: una revisión sistemática / Mobile phone applications in Parkinson's disease: A systematic review

Introducción: La enfermedad de Parkinson (EP) es la segunda enfermedad neurodegenerativa más frecuente, pero su diagnóstico, valoración y tratamiento son complejos y requiere de una atención sanitaria continuada en el tiempo. En este sentido, las características de los teléfonos móviles inteligentes o smartphones hacen que se plantee su uso en el ámbito de la asistencia del paciente con EP. Objetivo: El objetivo del presente trabajo es realizar una revisión sistemática sobre el uso de aplicaciones móviles (apps) en la EP. Material y métodos: Se llevó a cabo una búsqueda bibliográfica incluyendo artículos publicados en inglés o castellano, del año 2011 hasta el 2016, y que presentasen, analizasen o validasen un sistema basado en una app con utilidad o diseño específico para la EP. A su vez, se llevó a cabo una búsqueda de aplicaciones móviles en los principales mercados de aplicaciones móviles. Conclusiones: Se encontraron mediante ambas búsquedas 125 aplicaciones, de las cuales 56 se clasificaron con potencial utilidad en la EP, y 69 con un diseño específico para la EP, siendo 23 apps de información sobre EP, 29 apps de valoración, 13 apps de tratamiento y 4 apps de valoración y tratamiento. Existen un gran número de aplicaciones móviles con potencial utilidad y diseño específico en la EP; sin embargo; la evidencia científica acerca de los mismos es escasa y de baja calidad. Son necesarios estudios posteriores para validar esta tecnología, así como una regulación por parte de organismos acerca de su uso

Introduction: Parkinson's disease (PD) is the second most common neurodegenerative disease. However, diagnosing, assessing, and treating these patients is a complex process requiring continuous monitoring. In this context, smartphones may be useful in the management of patients with PD. Objective: The purpose of this study is to perform a systematic review of the literature addressing the use of mobile phone applications (apps) in PD. Materials and methods: We conducted a literature search of articles published in English or Spanish between 2011 and 2016 analysing or validating apps specifically designed for or useful in PD. In addition, we searched for apps potentially useful for PD patients in the leading app stores. Conclusions: The literature and app searches yielded a total of 125 apps, 56 of which were classified as potentially useful in PD and 69 as specifically designed for PD (23 information apps, 29 assessment apps, 13 treatment apps, and 4 assessment and treatment apps). Numerous mobile apps are potentially useful in or specifically designed for PD management. However, scientific evidence of their usefulness is scarce and of poor quality. Further studies are needed to validate these tools and regulate their use

Mobile phone applications in Parkinson's disease: A systematic review. / Aplicaciones móviles en la enfermedad de Parkinson: una revisión sistemática.

INTRODUCTION: Parkinson's disease (PD) is the second most common neurodegenerative disease. However, diagnosing, assessing, and treating these patients is a complex process requiring continuous monitoring. In this context, smartphones may be useful in the management of patients with PD. OBJECTIVE: The purpose of this study is to perform a systematic review of the literature addressing the use of mobile phone applications (apps) in PD. MATERIALS AND METHODS: We conducted a literature search of articles published in English or Spanish between 2011 and 2016 analysing or validating apps specifically designed for or useful in PD. In addition, we searched for apps potentially useful for PD patients in the leading app stores. CONCLUSIONS: The literature and app searches yielded a total of 125 apps, 56 of which were classified as potentially useful in PD and 69 as specifically designed for PD (23 information apps, 29 assessment apps, 13 treatment apps, and 4 assessment and treatment apps). Numerous mobile apps are potentially useful in or specifically designed for PD management. However, scientific evidence of their usefulness is scarce and of poor quality. Further studies are needed to validate these tools and regulate their use.

Safe intrathecal fluorescein use for identification of cerebrospinal fluid leaks: Case-report and perioperative algorithm description. / Uso seguro de fluoresceína intratecal en la localización de las fístulas de líquido cefalorraquídeo: descripción de un caso e implementación de un algoritmo perioperatorio.

Intrathecal injection of fluorescein is a method for repairing cerebrospinal fluid fistulas. The most frequent surgical procedure is endonasal endoscopy and the purpose of injecting this dye is to locate the fistula. The anaesthesiologists usually perform the puncture, therefore it is necessary to review this method and to specify some anaesthetic considerations such as correct dosing, safe management protocols and medical-legal aspects. In this case-report we describe the pre, intra and postoperative protocol of action implemented in our department that basically consists of: obtaining a specific consent, prior neurological/ophthalmologic assessment to rule out hypertension and brain damage, use of corticosteroids and previous antihistamines, choosing the correct dose and concentration of intrathecal sodium fluorescein (maximum 1ml at a concentration of 5% diluted in 9ml of cerebrospinal fluid) and close intra and postoperative monitoring.

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.

BACKGROUND: Calmodulin 1, 2 and 3 (CALM) mutations have been found to cause cardiac arrest in children at a very early age. The underlying aetiology described is long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and idiopathic ventricular fibrillation (IVF). Little phenotypical data about CALM2 mutations is available. OBJECTIVES: The aim of this paper is to describe the clinical manifestations of the Asn98Ser mutation in CALM2 in two unrelated children in southern Spain with apparently unexplained cardiac arrest/death. METHODS: Two unrelated children aged 4 and 7, who were born to healthy parents, were studied. Both presented with sudden cardiac arrest. The first was resuscitated after a VF episode, and the second died suddenly. In both cases the baseline QTc interval was within normal limits. Peripheral blood DNA was available to perform targeted gene sequencing. RESULTS: The surviving 4-year-old girl had a positive epinephrine test for LQTS, and polymorphic ventricular ectopic beats were seen on a previous 24-hour Holter recording from the deceased 7-year-old boy, suggestive of a possible underlying CPVT phenotype. A p.Asn98Ser mutation in CALM2 was detected in both cases. This affected a highly conserved across species residue, and the location in the protein was adjacent to critical calcium binding loops in the calmodulin carboxyl-terminal domain, predicting a high pathogenic effect. CONCLUSIONS: Human calmodulin 2 mutation p.Asn98Ser is associated with sudden cardiac death in childhood with a variable clinical penetrance. Our results provide new phenotypical information about clinical behaviour of this mutation.

Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.

INTRODUCTION: Molecular testing of Inherited bleeding coagulation disorders (IBCDs) not only offers confirmation of diagnosis but also aids in genetic counselling, prenatal diagnosis and in certain cases genotype-phenotype correlations are important for predicting the clinical course of the disease and to allow tailor-made follow-up of individuals. Until recently, genotyping has been mainly performed by Sanger sequencing, a technique known to be time consuming and expensive. Currently, next-generation sequencing (NGS) offers a new potential approach that enables the simultaneous investigation of multiple genes at manageable cost. AIM: The aim of this study was to design and to analyse the applicability of a 23-gene NGS panel in the molecular diagnosis of patients with IBCDs. METHODS: A custom target enrichment library was designed to capture 31 genes known to be associated with IBCDs. Probes were generated for 296 targets to cover 86.3 kb regions (all exons and flanking regions) of these genes. Twenty patients with an IBCDs phenotype were studied using NGS technology. RESULTS: In all patients, our NGS approach detected causative mutations. Twenty-one pathogenic variants were found; while most of them were missense (18), three deletions were also identified. Six novel mutations affecting F8, FGA, F11, F10 and VWF genes, and 15 previously reported variants were detected. NGS and Sanger sequencing were 100% concordant. CONCLUSION: Our results demonstrate that this approach could be an accurate, reproducible and reliable tool in the rapid genetic diagnosis of IBCDs.

[Fetal bradycardia: a retrospective study in 9 Spanish centers]. / Bradicardia fetal: estudio multicéntrico retrospectivo en 9 hospitales españoles.

OBJECTIVE: The aim of this study is to review the current management and outcomes of fetal bradycardia in 9 Spanish centers. METHODS: Retrospective multicenter study: analysis of all fetuses with bradycardia diagnosed between January 2008 and September 2010. Underlying mechanisms of fetal bradyarrhythmias were studied with echocardiography. RESULTS: A total of 37 cases were registered: 3 sinus bradycardia, 15 blocked atrial bigeminy, and 19 high grade atrioventricular blocks. Sinus bradycardia: 3 cases (100%) were associated with serious diseases. Blocked atrial bigeminy had an excellent outcome, except for one case with post-natal tachyarrhythmia. Of the atrioventricular blocks, 16% were related to congenital heart defects with isomerism, 63% related to the presence of maternal SSA/Ro antibodies, and 21% had unclear etiology. Overall mortality was 20% (37%, if terminations of pregnancy are taken into account). Risk factors for mortality were congenital heart disease, hydrops and/or ventricular dysfunction. Management strategies differed among centers. Steroids were administrated in 73% of immune-mediated atrioventricular blocks, including the only immune-mediated IInd grade block. More than half (58%) of atrioventricular blocks had a pacemaker implanted in a follow-up of 18 months. CONCLUSIONS: Sustained fetal bradycardia requires a comprehensive study in all cases, including those with sinus bradycardia. Blocked atrial bigeminy has a good prognosis, but tachyarrhythmias may develop. Heart block has significant mortality and morbidity rates, and its management is still highly controversial.

Cianosis diferencial inversa: ¿qué significa? / Reversed differential cyanosis: what does it mean?

La cianosis diferencial-término que indica una mejor oxigenación de la parte superior del cuerpo (preductal) respecto a la inferior (posductal)-es un hallazgo bien conocido en pediatría, y su causa más frecuente es la hipertensión pulmonar persistente del recién nacido. Por otro lado, hay casos excepcionales en los que se registra una cianosis diferencial inversa y la parte superior del cuerpo está peor oxigenada que la inferior. En este trabajo presentamos 2 casos clínicos con dicho hallazgo: un recién nacido con transposición de grandes vasos con hipertensión pulmonar y otro con drenaje venoso pulmonar anómalo total supracardiaco. Se revisa la bibliografía y se explica la fisiopatología de la cianosis diferencial inversa, demostrándose que es patognomónica de una cardiopatía congénita severa. Concluimos que la medición simultánea de la saturación en el territorio preductal y posductal mediante pulsioximetría debería ser siempre parte integrante de la valoración del recién nacido cianótico(AU)

Differential cyanosis -better oxygenation of the upper (preductal) part of the body with respect to the lower (postductal) part- is a well-known condition in pediatrics, being persistent pulmonary hypertension of the newborn its most common cause. On the other hand, reversed differential cyanosis (RDC) -upper body less oxygenated than the inferior- is a rare condition. This report describes two newborns presenting RDC: a case with transposition of the great arteries with pulmonary hypertension and a case with supracardiac total anomalous pulmonary vein connection. We review the existing literature and discuss its physiopathological bases, demonstrating that this condition is pathognomonic of severe congenital cardiopathy. Therefore, simultaneous preductal and postductal oxygen saturation should be always documented as part of the evaluation of the cyanotic newborn(AU)

Genome-wide profiling of methylation identifies novel targets with aberrant hypermethylation and reduced expression in low-risk myelodysplastic syndromes.

Gene expression profiling signatures may be used to classify the subtypes of Myelodysplastic syndrome (MDS) patients. However, there are few reports on the global methylation status in MDS. The integration of genome-wide epigenetic regulatory marks with gene expression levels would provide additional information regarding the biological differences between MDS and healthy controls. Gene expression and methylation status were measured using high-density microarrays. A total of 552 differentially methylated CpG loci were identified as being present in low-risk MDS; hypermethylated genes were more frequent than hypomethylated genes. In addition, mRNA expression profiling identified 1005 genes that significantly differed between low-risk MDS and the control group. Integrative analysis of the epigenetic and expression profiles revealed that 66.7% of the hypermethylated genes were underexpressed in low-risk MDS cases. Gene network analysis revealed molecular mechanisms associated with the low-risk MDS group, including altered apoptosis pathways. The two key apoptotic genes BCL2 and ETS1 were identified as silenced genes. In addition, the immune response and micro RNA biogenesis were affected by the hypermethylation and underexpression of IL27RA and DICER1. Our integrative analysis revealed that aberrant epigenetic regulation is a hallmark of low-risk MDS patients and could have a central role in these diseases.

[Atypical evolution of liver hemangioma: a report of two cases]. / Evolución atípica del hemangioma hepático: a propósito de dos casos.

We present and illustrate two cases of atypical evolution of liver hemangiomas studied with magnetic resonance imaging. In the first case, the lesion was associated with capsular retraction and became progressively smaller until it completely disappeared. The second case involved a woman taking birth control pills in whom the lesion grew progressively larger, doubling its diameter.

Hipertensión intracraneal idiopática como forma de presentación de la enfermedad de Addison / Idiopathic intracranial hypotension as the presenting symptom of Addison’s disease

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El daño peroxidativo en leucocitos peritoneales de ratones viejos disminuye si se suplementa la dieta con galletas enriquecidas con antioxidantes. Relación con la supervivencia / Lipid peroxidation in peritoneal leukocytes from aged mice is decreased by antioxidant dietary supplementation. Relationship with survival

Introducción: el envejecimiento está asociado a un estrés oxidativo crónico que se manifiesta en un mayor daño a macromoléculas como es el caso de los lípidos, y el producto de degradación más representativo de éstos es el malondialdehído (MDA). Los leucocitos producen compuestos oxidantes para realizar sus funciones y son muy sensibles al daño oxidativo. Por ello, se han analizado las concentraciones de MDA en leucocitos peritoneales de ratones durante el envejecimiento, y el efecto, en animales viejos, de una dieta enriquecida con antioxidantes en estas concentraciones, así como su posible incidencia en la longevidad. Material y métodos: el MDA se valoró por HPLC (high-performance liquid chromatography) en leucocitos peritoneales de ratones de la cepa ICR (CD 1) jóvenes (16 ± 2 semanas), adultos (36 ± 2 semanas), maduros (52 ± 2 semanas) y viejos (71 ± 2 y 81 ± 2 semanas), y en los de estos últimos tras la ingestión, durante 5 y 15 semanas de una dieta suplementada (en un 20% p/p) con galletas enriquecidas en antioxidantes. Estos animales viejos ingirieron hasta su muerte la dieta suplementada, para obtener la posible relación entre la ingestión de esta dieta y la longevidad. Resultados: los valores de MDA aumentan con la edad, y la ingestión, en animales viejos, de una dieta enriquecida con antioxidantes, tanto durante 5 como 15 semanas, los disminuye; se observa una relación inversa entre los valores de MDA y la longevidad. Conclusiones: en animales viejos, la ingestión de una dieta enriquecida en antioxidantes disminuye el grado de peroxidación lipídica en leucocitos peritoneales, lo que se refleja en un aumento de su longevidad

Introduction: ageing is associated with chronic oxidative stress, which leads to increased damage to macromolecules, such as lipids. One of the most important end products of lipid peroxidation is the malondialdehyde molecule (MDA). Leukocytes produce reactive oxygen species to support their functions and are highly sensitive to oxidative damage. The aim of this study was to ascertain MDA levels in peritoneal leucocytes from mice during ageing, as well as the effect of antioxidant dietary supplementation in aged mice on the levels of this molecule and its possible incidence on longevity. Material and methods: MDA levels were assessed by high-performance liquid chromatography in peritoneal leukocytes from ICR (CD 1) mice at young (16 ± 2 weeks), adult (36 ± 2 weeks), mature (52 ± 2 weeks) and old (71 ± 2 and 81 ± 2 weeks) ages. At the latter age, MDA content was also measured after 5 and 15 weeks of dietary supplementation (20% w/w) with biscuits enriched with nutritional doses of antioxidants. The mice received the supplementation until death to ascertain the possible relationship between ingestion of an antioxidant-enriched diet and longevity. Results: MDA levels increased during ageing, whereas the levels of lipid peroxidation decreased after 5 and 15 weeks of antioxidant dietary supplementation in aged mice. Moreover, an inverse relationship between MDA content and longevity was observed. Conclusions: our results demonstrate that in aged mice ingestion of an antioxidant-enriched diet decreases lipid peroxidation in peritoneal leukocytes, leading to increased longevity

[Nutritional evaluation in patients with total gastrectomy]. / Evaluación nutricional en pacientes con gastrectomía total.

Gastric cancer continues to be the second cause of cancer-related mortality in the world. Surgery is the only potentially curative therapy, although the adverse effects of surgery are considerable and include digestive symptoms, loss of appetite and malnutrition. Our study included 45 patients subjected to gastrectomy who were under treatment at our unit during 2000. The data given here refer to their first visit following surgery. The most frequent complications were diarrhoea (31%), pain (29%) and early dumping (24%). Other complications found were late dumping, nausea/vomiting and dysphagia. Anorexia appeared in 49% and 29% presented a negative attitude towards food. These complications give rise to insufficient food intake, leading to malnutrition, mainly marasmic in nature. Only 7% of the patients were normonourished, with 86% presenting slight or moderate malnutrition and 7% severe malnutrition. The mean Body Mass Index (BMI) of these patients was 20 +/- 3 kg/m2. The most frequent analytical alterations were anaemia with ferropenia and b12 deficit, and a reduction in the levels of zinc and retinol transporting protein. Many patients had impaired quality of life; 43% did not leave home and only 13% were able to work. Three groups were established depending on the time that had passed since the gastrectomy was performed before the first nutritional assessment (less than 3 months, from three months to a year, and over one year), without significant differences being found in any of the parameters studied. In this article we include recommendations for the nutritional handling and treatment of patients following gastrectomy.

Evaluación nutricional en pacientes con gastrectomía total / Nutritional assessment in patients with total gastrectomy

El cáncer gástrico continúa siendo la segunda causa más frecuente de mortalidad por cáncer en el mundo. La cirugía es el único tratamiento potencialmente curativo, aunque los efectos adversos de la cirugía son importantes e incluyen síntomas digestivos, pérdida de apetito y desnutrición. En nuestro estudio se incluyeron 45 pacientes gastrectomizados que estaban en tratamiento en nuestra unidad en el año 2000. Los datos aquí expuestos se refieren a la primera visita poscirugía. Las complicaciones más frecuentes fueron diarrea (31 por ciento), dolor (29 por ciento) y dumping precoz (24 por ciento). Otras complicaciones fueron dumping tardío, nauseas, vómitos y disfagia. El 49 por ciento presentaban anorexia, el 29 por ciento actitud negativa ante la comida. Estas complicaciones dan lugar a una alimentación insuficiente, generando malnutrición, principamente de tipo marasmática. Sólo el 7 por ciento de los pacientes estaban normonutridos, el 86 por ciento presentaban desnutrición leve o moderada y el 7 por ciento malnutrición severa. El índice de masa corporal (IMC) medio de estos pacientes fue de 20 +/- 3kg/m2. Las alteraciones analíticas más frecuentes fueron anemia con ferropenia y déficit de B12 y disminución de los niveles de zinc y proteína transportadora de retinol. Muchos pacientes veían afectada su calidad de vida; el 43 por ciento no salen de casa y sólo pueden trabajar el 13 por ciento. Se establecieron tres grupos en función del tiempo transcurrido desde la gastrectomía hasta la primera valoración nutricional (menos de 3 meses, entre los tres meses y el año y más de un año) no encontrándose diferencias significativas en ninguno de los parámetros estudiados. En este trabajo incluimos recomendaciones para el manejo y tratamiento nutricional del paciente gastrectomizado (AU)

Gastric cancer continues to be the second cause of cancer-related mortality in the world. Surgery is the only potentially curative therapy, although the adverse effects of surgery are considerable and include digestive symptoms, loss of appetite and malnutrition. Our study included 45 patients subjected to gastrectomy who were under treatment at our unit during 2000. The data given here refer to their first visit following surgery. The most frequent complications were diarrhoea (31%), pain (29%) and early dumping (24%). Other complications found were late dumping, nausea/vomiting and dysphagia. Anorexia appeared in 49% and 29% presented a negative attitude towards food. These complications give rise to insufficient food intake, leading to malnutrition, mainly marasmic in nature. Only 7% of the patients were normonourished, with 86% presenting slight or moderate malnutrition and 7% severe malnutrition. The mean Body Mass Index (BMI) of these patients was 20 ± 3 kg/m2. The most frequent analytical alterations were anaemia with ferropenia and b12 deficit, and a reduction in the levels of zinc and retinol transporting protein. Many patients had impaired quality of life; 43% did not leave home and only 13% were able to work. Three groups were established depending on the time that had passed since the gastrectomy was performed before the first nutritional assessment (less than 3 months, from three months to a year, and over one year), without significant differences being found in any of the parameters studied. In this article we include recommendations for the nutritional handling and treatment of patients following gastrectomy (AU)

Uso profiláctico y terapéutico del ibuprofeno en el cierre del ductus en el recién nacido pretérmino / Prophylactic and therapeutic use of ibuprofen in ductus closure in the preterm newborn

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