Supported Diagnosis of Attention Deficit and Hyperactivity Disorder from EEG Based on Interpretable Kernels for Hidden Markov Models.

As a neurodevelopmental pathology, Attention Deficit Hyperactivity Disorder (ADHD) mainly arises during childhood. Persistent patterns of generalized inattention, impulsivity, or hyperactivity characterize ADHD that may persist into adulthood. The conventional diagnosis relies on clinical observational processes yielding high rates of overdiagnosis due to varying interpretations among specialists or missing information. Although several studies have designed objective behavioral features to overcome such an issue, they lack significance. Despite electroencephalography (EEG) analyses extracting alternative biomarkers using signal processing techniques, the nonlinearity and nonstationarity of EEG signals restrain performance and generalization of hand-crafted features. This work proposes a methodology to support ADHD diagnosis by characterizing EEG signals from hidden Markov models (HMM), classifying subjects based on similarity measures for probability functions, and spatially interpreting the results using graphic embeddings of stochastic dynamic models. The methodology learns a single HMM for EEG signal from each patient, so favoring the inter-subject variability. Then, the Probability Product Kernel, specifically developed for assessing the similarity between HMMs, fed a support vector machine that classifies subjects according to their stochastic dynamics. Lastly, the kernel variant of Principal Component Analysis provided a means to visualize the EEG transitions in a two-dimensional space, evidencing dynamic differences between ADHD and Healthy Control children. From the electrophysiological perspective, we recorded EEG under the Stop Signal Task modified with reward levels, which considers cognitive features of interest as insufficient motivational circuits recruitment. The methodology compares the supported diagnosis in two EEG channel setups (whole channel set and channels of interest in frontocentral area) and four frequency bands (Theta, Alpha, Beta rhythms, and a wideband). Results evidence an accuracy rate of 97.0% in the Beta band and in the channels where previous works found error-related negativity events. Such accuracy rate strongly supports the dual pathway hypothesis and motivational deficit concerning the pathophysiology of ADHD. It also demonstrates the utility of joining inhibitory and motivational paradigms with dynamic EEG analysis into a noninvasive and affordable diagnostic tool for ADHD patients.

Consensus paper on postural dysfunction: recommendations for prevention, diagnosis and therapy.

Good fundamentals of posture and balance are essential for the efficient performance of both simple daily tasks and more complex movement patterns. In particular, postural balance is the ability to keep the body in equilibrium and to regain balance after the shift of body segments: postural control mechanisms of integration of the visual, vestibular and foot afferential channels contribute to this. This document provides recommendations based on scientific evidence, clinical practice, and consensus between experts concerning the prevention, diagnosis, and treatment of postural dysfunction at the three stages of life as the developmental age, adult age, and old age > 65 years and follows the "National Guidelines on Classification and Measuring of Posture and its Dysfunctions" per the Italian Ministry of Health (December 2017). The paper answers four main questions: i) "Which measures can be adopted to prevent postural dysfunctions?" ii) "What can we do in order to make a correct diagnosis of postural dysfunction?" iii) "What are the correct treatment programs for postural dysfunctions?" iv) Which professional competencies and experiences are useful for preventing, diagnosing and treating postural dysfunctions? By the Consensus of the Experts and the scientific evidence, emerge that the approach to postural dysfunctions requires a multidisciplinary and interdisciplinary team. Furthermore, rehabilitation treatment interventions must be specific to the age groups that have been indicated, to consider the integration of the main systems and subsystems of postural control that change with age.

Muerte Súbita en Epilepsia (SUDEP): Encuesta a familiares de pacientes con epilepsia y a profesionales de la salud / Sudden unexpected death in epilepsy (SUDEP): Epilepsy Family and Survey health professionals

Sudden unexpected death in epilepsy (SUDEP), definida como la muerte brusca, inesperada, con o sin testigos, no traumática ni por ahogo, que ocurre en circunstancias benignas, en un individuo con epilepsia, con o sin evidencias de crisis, pero sin estado epiléptico. En general, afecta sobre todo a pacientes con epilepsia refractaria. La incidencia es de 4-7/1000 pacientes al año. En nuestra región, no contamos con muchos datos epidemiológicos de SUDEP, lo cual es un desafío a investigar, ya que sabemos que el 85% de los pacientes con epilepsia viven en países en desarrollo. Es muy importante que los pacientes y/o familiares conozcan sobre SUDEP, ya que ayuda a lograr mejor lo objetivos de tratamiento, promueve mejor el reporte médico-paciente, disminuye ansiedad, filtra la información inadecuada y creencias inapropiadas. Pero es necesario preguntarles a ellos, cuanto saben de SUDEP, cómo, que y cuando recibir esta información. Existen países y culturas donde está vedado hablar de SUDEP. Tampoco conocemos cómo los médicos manejamos el tema, cuando decirlo, que contar y cómo hacerlo. Por otro lado, hay controversias entre los epileptólogos, en qué momento tratar la temática. Por este motivo, se realiza una encuesta a pacientes con epilepsia y/o familiares, además de especialistas médicos. El objetivo es evaluar si los colegas especialistas están hablando del tema y por otro lado constatar los conocimientos de SUDEP en los pacientes y/o familiares. Los resultados de la encuesta, arrojan que la mayoría de los médicos no habla del tema y la mayor parte de los familiares de pacientes con epilepsia desea conocer la temática al inicio de la enfermedad, contada por el médico. Gran número de ellos se ha informado por redes sociales y creen que es prevenible.

Sudden unexpected death in epilepsy (SUDEP), is defined as sudden, unexpected death, with or without witnesses, neither traumatic nor by choking, occurring in benign circumstances in an individual with epilepsy, with or without evidence of crisis, but without epileptic status. In general, it mainly affects patients with refractory epilepsy. The incidence is 4-7/1000 patients per year. In our region, we do not have much epidemiological data about SUDEP, which is a challenge to investigate, as we know that 85% of epilepsy patients live in developing countries. It is important to ask patients and/or family members how much do they know about SUDEP and how as well as when to receive this information. It is important that parents and/or family members know about SUDEP, as it helps to better achieve treat ment goals, better promotes doctor-patient reporting, decreases anxiety, filters inadequate information and inappropriate beliefs. There are countries and cultures where it is forbidden to talk about SUDEP. We also do not know how doctors handle the subject, when to talk about it, what to tell and how to do it. On the other hand, there are controversies among epileptologists at which point to deal with this subject. For this reason, a survey is conducted on parents of children with epilepsy and/or family members, as well as medical specialists. The objective is to be able to evaluate how specialist colleagues are talking about the topic and on the other hand evaluate some parameters of SUDEP in parents and/or family members. Most doctors do not talk about it and most relatives of epilepsy patients want to know the topic of the onset of the disease form their doctor. Large numbers of them have gathered information on SUDEP through social networks and believe it is preventable.

Intervenciones psicológicas en cuidadores primarios de pacientes con trasplante de células hematopoyéticas: Revisión descriptiva / Psychological interventions on primary care healthcare providers of patients with hematopoietic cells transplantation: Descriptive revision / Intervenções psicológicas em cuidadores primários de pacientes com transplante de células hematopoiéticas: Revisão descritiva

Resumen Introducción: El ser cuidador primario informal de un paciente con indicación médica de trasplante de células progenitoras hematopoyéticas puede tener consecuencias negativas en su salud mental y calidad de vida. Objetivo: Describir las intervenciones psicológicas disponibles para el cuidador primario de pacientes sometidos a trasplante de células hematopoyéticas. Metodología: Se realizó una búsqueda sistematizada de los últimos 10 años con los términos MeSH: psychotherapy AND caregive AND stem cell transplantation en las principales bases de datos médicas y de psicología, para su análisis se empleó la estrategia: Problema, Intervención, Comparación y Outcomes (PICO). Resultados: Se identificaron 122 artículos, de ellos diez cumplieron los criterios de inclusión. Las intervenciones provenían de profesionales de enfermería o trabajo social; el 50% incluyó diadas (paciente y cuidador primario), mostraron una tendencia de duración corta, enfocada al periodo posterior al trasplante. Se basan en el entrenamiento en solución de problemas, manejo de estrés, atención plena y expresión emocional. Las intervenciones lograron la disminución de la depresión, ansiedad y estrés en el cuidador; pero no alcanzaron permanencia en la significancia estadística de dichos restablecimientos. Discusión: De acuerdo con lo observado en las publicaciones y por su impacto positivo en la salud mental, se recomienda la implementación de intervenciones psicológicas en cuidadores de pacientes con trasplante de células progenitoras hematopoyéticas. Conclusión: El apoyo psicológico brindado al cuidador generalmente es de profesionales de la salud que no pertenecen al área de la psicología, con resultados clínicos favorables en las etapas más críticas de su estado mental.

Abstract Introduction: Being an informal primary healthcare provider of a patient who undergoes hematopoietic progeny cells transplantation can have adverse consequences on mental health and the quality of life. Objective: To describe the available psychological interventions for the primary healthcare provider of patients undergoing hematopoietic cells transplantations. Methodology: A systematized search of the last 10 years using the MeSH terms psychotherapy AND caregiver AND stem cell transplantation was conducted on the main medical and psychological databases. The analysis strategy followed the PICO scheme (Problem, Intervention, Comparison, Outcomes). Results: 122 articles were identified, and 10 of them fulfilled the inclusion criteria. The interventions were related to nursing or social work professionals. 50% described patient-healthcare provider dyads with short interventions focused on the post-transplantation period. Discussion: According to what has been observed in the publications and due to its positive impact on mental health, the implementation of psychological interventions is recommended in caregivers of patients who underwent hematopoietic stem cell transplantation. Conclusion: The psychological support provided to the caregiver comes mainly from health professionals who do not belong to the area of psychology, with favorable clinical results in the most critical periods for their mental state.

Resumo Introdução: Ser cuidador primário informal de um paciente sometido a transplante de células progenitoras hematopoiéticas pode ter consequências negativas na saúde mental e na qualidade de vida. Objetivo: Descrever as intervenções psicológicas disponíveis para o cuidador primário de pacientes sometidos a transplante de células hematopoiéticas. Metodologia: Realizou-se uma busca sistematizada dos últimos 10 anos com os termos MeSH: psychotherapy AND caregive AND stem cell transplantation nas principais bases de dados médicas e de psicologia, para sua análise realizou-se a estratégia: Problema, Intervenção, Comparação e Outcomes (PICO). Resultados: Identificaram-se 122 artigos, dos quais, dez cumpriram os critérios de inclusão. As intervenções provinham de profissionais em enfermagem ou trabalho social; o 50% incluiu díades (paciente e cuidador primário), mostraram uma tendência de duração curta, focalizada no período posterior ao transplante. Baseiam-se no treinamento em solução de problemas, manejo de estresse, atenção plena e expressão emocional. As intervenções conseguiram melhoras clínicas na diminuição da depressão, ansiedade e estresse no cuidador; mas não alcançaram permanência na significância estatística destes restabelecimentos. Discussão: Conforme o observado nas publicações e por seu impacto positivo na saúde mental, recomenda-se a implementação de intervenções psicológicas em cuidadores de pacientes para quem se indicou transplante de células progenitoras hematopoiéticas. Conclusão: O apoio psicológico oferecido ao cuidador vem de principalmente profissionais da saúde que não pertencem à área da psicologia, com resultados clínicos favoráveis nos períodos mais críticos para seu estado mental.

Creación del distintivo Soludable: un modelo de certificación en fotoprotección para centros escolares / Creation Of The «Soludable» Sun Protection Accreditation Program For Schools

Introducción: La exposición solar en la infancia es el principal factor de riesgo para el desarrollo de cáncer de piel en la vida adulta. Las intervenciones basadas en programas y políticas de fotoprotección escolar han demostrado ser las estrategias más eficaces y coste-efectivas para la prevención del cáncer de piel. Objetivos: Elaborar un modelo de certificación que permita identificar de forma objetiva aquellos centros escolares que promueven activamente la fotoprotección. Métodos: Se empleó metodología de consenso basada en panel de expertos, recurriendo al método Delphi en 2 rondas. Se analizaron las medianas de las valoraciones de la importancia y factibilidad de cada una de las recomendaciones, y el porcentaje de respuestas positivas para los niveles de cada una de ellas. Resultados: Se obtuvo un modelo integrado por 14 recomendaciones junto a sus criterios de evaluación, relativas a 7 dimensiones: 1) liderazgo organizacional (5 recomendaciones), 2) comunicación efectiva (2 recomendaciones), 3) elementos estructurales (2 recomendaciones), 4) formación de profesionales (una recomendación), 5) currículum escolar (una recomendación), 6) modelos de conducta (2 recomendaciones) y 7) hábitos del alumnado (una recomendación). Todas las recomendaciones mostraron un alto nivel de acuerdo, tanto en la valoración de la importancia y factibilidad como en la categorización de los niveles de complejidad. Conclusión: Se trata del primer distintivo de fotoprotección escolar que se desarrolla en nuestro país. Se necesitan estudios que evalúen el grado de aceptación de la estrategia y su impacto en los hábitos de fotoprotección de los escolares

Introduction: Sun exposure during childhood is the main risk factor for skin cancer in later life. School-based sun protection policies and practices have proven to be the most effective and cost-effective strategies for preventing skin cancer. Objective: To develop a sun protection accreditation program known as «Soludable» (a play on the Spanish words sol [sun] and saludable [healthy]) to objectively identify schools that actively promote sun protection behaviors among students. Methods: The consensus method used was a 2-round Delphi technique with input from a panel of experts. We then calculated the median scores for the importance and feasibility of each of the recommendations proposed and the level of complexity assigned to each recommendation by counting the percentage of experts who chose each difficulty category. Results: The resulting accreditation model consists of 14 recommendations with corresponding evaluation criteria divided into 7 domains: 1) organizational leadership (5 recommendations), 2) effective communication (2 recommendations), 3) structural elements (2 recommendations), 4) training of professionals (1 recommendation), 5) school curriculum (1 recommendation), 6) behavioral models (2 recommendations), and 7) student habits (1 recommendation). A high level of agreement among experts was observed for all recommendations, in terms of both their perceived importance and feasibility and their categorization by levels of complexity. Conclusions: This is the first sun protection accreditation program developed for Spanish schools. Studies are needed to evaluate how this program is received and how it affects students' sun protection behaviors

Creation Of The «Soludable¼ Sun Protection Accreditation Program For Schools. / Creación del distintivo Soludable: un modelo de certificación en fotoprotección para centros escolares.

INTRODUCTION: Sun exposure during childhood is the main risk factor for skin cancer in later life. School-based sun protection policies and practices have proven to be the most effective and cost-effective strategies for preventing skin cancer. OBJECTIVE: To develop a sun protection accreditation program known as «Soludable¼ (a play on the Spanish words sol [sun] and saludable [healthy]) to objectively identify schools that actively promote sun protection behaviors among students. METHODS: The consensus method used was a 2-round Delphi technique with input from a panel of experts. We then calculated the median scores for the importance and feasibility of each of the recommendations proposed and the level of complexity assigned to each recommendation by counting the percentage of experts who chose each difficulty category. RESULTS: The resulting accreditation model consists of 14 recommendations with corresponding evaluation criteria divided into 7 domains: 1) organizational leadership (5 recommendations), 2) effective communication (2 recommendations), 3) structural elements (2 recommendations), 4) training of professionals (1 recommendation), 5) school curriculum (1 recommendation), 6) behavioral models (2 recommendations), and 7) student habits (1 recommendation). A high level of agreement among experts was observed for all recommendations, in terms of both their perceived importance and feasibility and their categorization by levels of complexity. CONCLUSIONS: This is the first sun protection accreditation program developed for Spanish schools. Studies are needed to evaluate how this program is received and how it affects students' sun protection behaviors.

Kidney transplantation for end-stage renal disease in lupus nephritis, a very safe procedure: a single Latin American transplant center experience.

Background Lupus nephritis (LN) is one of the most frequent complications of SLE and occurs in up to 50% of cases depending on the studied population. Of these, approximately 20% progress to end-stage renal disease (ESRD), with the treatment of choice being a kidney transplant. Objective The objective of this study was to describe the clinical outcome of patients transplanted due to LN, compared with patients transplanted for other causes, in a Latin American population from the Fundación Valle del Lili in Cali, Colombia. Methods Observational, retrospective case study with controls matched by age, sex and type of donor in a single center between 1996 and 2014. Results Sixty-five kidney transplants were performed in patients with LN and ESRD. The survival of patients with LN was 98% at 1, 10 and 15 years ( p = .99). For controls by age and sex, survival was also 98% at 15 years post-transplant, and for controls by donor, the survival rate was 100% at 5 years and 98% at 15 years. Graft survival in patients with LN to 1, 5 and 15 years was 92%, 83% and 71%, respectively; for controls by age and sex, it was 90%, 84% and 64%, respectively, and for the controls by donor, it was 89%, 86% and 79%, respectively ( p = .7718). There were no statistically significant differences found in the cumulative incidence of acute graft rejection in the first year, but it was found that acute rejection is a factor that relates to the loss of function of the renal graft ( p = .032). Of the patients transplanted for LN, two (3.1%) experienced a recurrence of the disease. One patient died after a diagnosis of recurrence of LN due to an infection. Conclusions Kidney transplantation is a good option for patients with ESRD due to LN. In this Hispanic population, the survival of patients, graft survival, and cumulative incidence of graft rejection are not different from those of other transplanted patients. In addition, recurrence of LN was rare, showing the benefits of renal transplantation in LN patients with ESRD.

Cognition and behavorial morbidity associated with sleep disordered breathing in children / Alteraciones cognitivas y conductuales en los trastornos respiratorios del sueño (TRS) en niños

Sleeep disorder breathing (SDB) in chilhood includes a broad spectrum of disease ranging from primary snoring to more severe forms of obstructive sleep apnea syndrome. They may be associated with alterations different than those seen in adults, e.g., children present a low percentage of daytime sleepiness. Nevertheless, they present great difficulties in their learning, and failure in memory and attention and reports of behavior of aggressiveness. We analyze in the present review the cognitive and behavioral deficits asscoaited with the RDS and the main tests that are made for its study

Los trastornos respíratorios del sueño (TRS) en la infancia incluyen un amplio espectro que comprende desde el ronquido primario hasta las formas más graves de síndrome de apnea obstructiva del sueño (SAOS). Los niños presentan sintomatología asociada distinta a los adultos, como un bajo porcentaje de sonmolencia diurna. No obstante refieren dificultades en su aprendizaje, fallas en memoria, atención y cambios en su hiperactividad y agresividad. Se analizan los déficit cognitivos y conductuales asociados a los TRSy las principales pruebas neuropsicológicas o test que se realizan para su estudio

Accidente vascular encefálico. Presentación clínica y factores de riesgo / Clinical presentation and risk factors of cerebrovascular accident

Introducción: La alteración focal aguda de la función cerebral en el adulto permite diagnosticar un accidente vascular encefálico (AVE) e iniciar precozmente el rescate de tejido cerebral. En los niños, las diferencias clínicas de esta patología en relación al adulto generan atraso, subdiagnóstico e impiden el tratamiento en la etapa aguda. Objetivo: Describir la presentación clínica y factores de riesgo del AVE isquémico en 156 niños, comparar la presentación clínica según edad y tipo de AVE. Pacientes y Método: Se analiza un registro de AVE isquémico, confirmado con imágenes cerebrales, en población menor de 18 años, iniciado en Enero 2003. Resultados: La mediana de edad: 4,9 meses (33 por ciento recién nacidos, 46 por ciento menores 6 años y 21 por ciento mayor de 6 años), 64 por ciento fueron hombres. Los infartos arteriales correspondieron al 85 por ciento y el resto fueron trombosis de senos venosos. Predominaron los signos difusos (67 por ciento) en menores de 6 años (p = 0,001). Las convulsiones fueron observadas en el 61 por ciento de los niños menores de 6 años (p = 0,03), el 33 por ciento presentó signos focales. Los factores de riesgo más frecuentes fueron patologías sistémicas agudas y cardiopatías. En 14,7 por ciento no se encontraron factores de riesgo. Conclusiones: La búsqueda de signos focales agudos de AVE no tiene utilidad diagnóstica en el niño, a diferencia de los adultos, pues su ausencia no excluye patología vascular isquémica focal. La patología sistémica aguda fue el factor de riesgo más frecuente para AVE.

Introduction: Acute focal brain dysfunction in adults serves to diagnose and to provide early rescue of the brain tissue. In children, the clinical differences of this condition compared to adults results in delayed diagnosis and treatment. Objective: To describe the clinical presentation and risk factors of CVA in 156 children and related to age and type of CVA. Patients and Method: A CVA registry of newborn to 18 years old was started in January 2003 were analized. Diagnosis was confirmed by brain imaging. Results: The median of age was 4.9 month (33 percent was newborn, 46 percent < 6 years old, 21 percent > 6 years old); 64 percent were males. Arterial ischemic stroke represented 85 percent, the rest were cerebral sinovenous thrombosis. In the clinical manifestations the diffuse signs were more frequently seen (67 percent) in children < 6 years of age (p 0.001). Seizures were observed in 61 percent in children < 6 years old (p = 0.03), 33 percent presented focal signs. The most common risk factors were acute systemic diseases and heart disease. 14.7 percent of the patients did not present risk factors. Conclusions: Acute focus signals of CVA in children have no diagnostic value, unlike adults; however absence doesn't exclude focal ischemic vascular disease. The acute systemic disease was the most common risk factor for stroke.

Metástasis de melanoma a seno: presentación de cuatro casos / Breast metastases from melanoma: a study

La afectación metastásica a seno es inusual y constituye un diagnóstico poco común en pacientes que se presentan con masa en este lugar. Su reconocimiento, sin embargo, es de extrema importancia, ya que puede prevenir tratamientos inapropiados, como procedimientos quirúrgicos innecesarios y deformantes y en algunos casos orientar la búsqueda activa de primarios desconocidos para brindar quimioterapia y radioterapia adecuada. El melanoma es la segunda neoplasia metastásica de mama más frecuente, después la afectación linfoproliferativa. En este artículo se presentan cuatro casos de metástasis de melanoma en seno, diagnosticados en el Instituto Nacional de Cancerología (Bogotá, Colombia), entre 2005 y 2010. Se presentan sus características clínicas, radiológicas y patológicas.

Expandable tumor prostheses in children.

Any surgical resection in the lower extremities in children will cause a leg length discrepancy from physeal resection. To avoid the resulting functional deficit, leg length discrepancy must be reconciled with surgical techniques to approximate equal leg lengths at skeletal maturity. Currently there are several manufacturers who offer options for prosthetic reconstruction with expandable implants. These implants can be expanded to a length projected on the basis of three factors: the length of bone resected, the anticipated future growth of the contralateral extremity, and the estimated discrepancy of limb length at skeletal maturity. In this article, we review the basic principles and guidelines for prediction of remaining bone growth and planning lengthening in children, and present the currently available expandable prostheses and the evolution performed over time.

Pentoxifylline as a rescue treatment for DMD: a randomized double-blind clinical trial.

OBJECTIVE: To determine whether pentoxifylline (PTX) slows the decline of muscle strength and function in ambulatory boys with Duchenne muscular dystrophy (DMD). METHODS: This was a multicenter, randomized, double-blinded, controlled trial comparing 12 months of daily treatment with PTX or placebo in corticosteroid-treated boys with DMD using a slow-release PTX formulation (~20 mg/kg/day). The primary outcome was the change in mean total quantitative muscle testing (QMT) score. Secondary outcomes included changes in QMT subscales, manual muscle strength, pulmonary function, and timed function tests. Outcomes were compared using Student t tests and a linear mixed-effects model. Adverse events (AEs) were compared using the Fisher exact test. RESULTS: A total of 64 boys with DMD with a mean age of 9.9 ± 2.9 years were randomly assigned to PTX or placebo in 11 participating Cooperative International Neuromuscular Research Group centers. There was no significant difference between PTX and the placebo group in total QMT scores (p = 0.14) or in most of the secondary outcomes after a 12-month treatment. The use of PTX was associated with mild to moderate gastrointestinal or hematologic AEs. CONCLUSION: The addition of PTX to corticosteroid-treated boys with DMD at a moderate to late ambulatory stage of disease did not improve or halt the deterioration of muscle strength and function over a 12-month study period. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that treatment with PTX does not prevent deterioration in muscle function or strength in corticosteroid-treated boys with DMD.

Cost-effectiveness analysis of the early conversion of tacrolimus to mammalian target of rapamycin inhibitors in patients with renal transplantation.

BACKGROUND: Renal replacement therapies which consist of renal transplantation and dialysis are the only treatment options for patients with terminal renal failure. These therapies have changed the outcome from being fatal to being a chronic disease. Kidney transplantation involves the use of immunosuppressive agents to prevent rejection. Currently, several immunosuppressive agents have shown efficacy, safety, and different costs. OBJECTIVE: The aim was to evaluate the cost-effectiveness of early conversion from tacrolimus to mammalian target of rapamycin inhibitors sirolimus or everolimus versus continuous treatment with tacrolimus among renal transplantat patients in Colombia. METHODS: We performed systematic literature review to extract data for clinical effectiveness and safety of tacrolimus replacement schemes for immunosuppressive therapy in renal transplantation in adults. A Markov model in TreeAge was developed, simulating the patient's natural history with renal transplantation. The perspective of the Colombian Health System was used, including only direct costs. The cost-effectiveness ratio and incremental cost-effectiveness ratio were estimated. Deterministic and probabilistic sensitivity analyses were performed. A 5% discount rate was applied in costs and health results. RESULTS: Results for the replacement of tacrolimus to sirolimus are provided. The cost per year of additional life gained for sirolimus was Col$2,441,171.43; the cost for avoided loss was Col$4,014,152.84. The acceptability curve shows that a strategy with sirolimus is the most cost-effective one. CONCLUSIONS: This study suggested that the sirolimus strategy is cost-effective in Colombia for patients with renal transplantation using as threshold less than three times the gross domestic product (GDP) per capita of Colombia per life of years gained.

Hidranencefalia en un recién nacido por toxoplasmosis congénita / Hydroanencephalia in a newborn due to congenital toxoplasmosis

A case is described of a full-term newborn with hydroanencephalia due to congenital toxoplasmosis. Prenatal diagnosis had been made. The infection was supposedly acquired in the early stages of the pregnancy, the mother presented positive serology for active infection. The newborn presented elevated specific IgM. Fetal and newborn MRI was compatible with hydrancencephalia. The newborn presented macrocephalia, cataracts, abnormal archaic reflexes, hypotonia, thermoregulation abnormalities, and altered spinal fluid. Due to the severity and rarity of this clinical picture, and an absence of a national detection program, the possibility of offering mothers the possibility of detecting this illness is highlighted.

Se presenta el caso de un recién nacido de término con hidranencefalia por toxoplasmosis congénita con diagnóstico prenatal, el cual habría adquirido su infección en forma precoz durante el embarazo. Destaca madre con serología positiva para infección activa. Recién Nacido (RN) con IgM específica elevada. Resonancia Magnética fetal y del neonato compatible con hidranencefalia. RN con macrocefalia, catarata, reflejos arcaicos anormales, hipotonía, alteración del la termorregulación y LCR alterado. Frente a la gravedad y lo inusual del cuadro clínico y considerando la ausencia de un programa nacional de tamizaje se destaca la importancia de ofrecer a la madre embarazada la posibilidad de detección precoz y prevención de esta enfermedad frente a las severas complicaciones neurológicas de esta infección congénita.

Criteria and outcome of limb salvage surgery.

When sufficient margins of resection surrounding the tumor can be achieved, limb salvage surgery, as opposed to amputation, has become the standard of care in treating patients with bone and soft tissue sarcoma of the extremities. Currently, 90-95% of patients with primary malignant bone and soft-tissue tumors involving the extremities can be treated safely with wide resection and limb salvage surgery with a low risk of recurrence and the same disease-free survival rate as amputative surgery. However, discussions persist regarding the indications and criteria, and whether limb salvage provides superior functional results and quality of life for cancer patients. In this study we aimed to review and update the current criteria, indications and contraindications of limb salvage surgery and discuss its role in the quality of life of cancer patients.

Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.

The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably underdiagnosed cause of congenital hypotonia. We report an infant girl with severe generalized hypotonia, born at 33 weeks gestation who required ventilatory assistance since birth. She had bilateral ptosis, mild knee and foot contractures and echocardiographic evidence of cardiomyopathy. A muscle biopsy at 1 month of age showed typical polyglucosan storage. The autopsy at 3.5 months of age showed frontal cortex polymicrogyria and polyglucosan bodies in neurons of basal ganglia, thalamus, substantia innominata, brain stem, and myenteric plexus, as well as liver involvement. Glycogen branching enzyme activity in muscle was virtually undetectable. Sequencing of the GBE1 gene revealed a homozygous 28 base pair deletion and a single base insertion at the same site in exon 5. This case confirms previous observations that GBE deficiency ought to be included in the differential diagnosis of congenital hypotonia and that the phenotype correlates with the 'molecular severity' of the mutation.

Estado epiléptico no convulsivo infantil / Non convulsive status epilepticus in children

Introduction: Status Epilepticus (SE) is a medical emergency with high morbimortality. Non-convulsive Status Epilepticus (NCSE) is defined as electroencephalographic crises in the absence of clinical motor symptoms. Objective: A restrospective study of NCSE in our population. Patients and Methods: Charts of 30 patients in a Child Neurology Clinic seen between December 1999 and June 2008 were reviewed. According to the characteristics of the episode, they were classified as a) Typical absence, b) Atypical absence, c) Partial Complex episode. Results: Of the 30 patients, 15 (50%) were males. Median age was 46 months. Clinically, 63% of the children suffered from complex partial seizures, 30% atypical absences, 7% typical absences. Cryptogenic SE was most frequent (47%), with a mortality of 3%. Discussion: Pediatric patients have a higher risk of NCSE than adults do. Most patients already carried a diagnosis of Epilepsy, cerebral infarcts were the second most frequent cause of NCSE. They should all be monitored through EEGs. Neuroimages are of great value since outcome depends on the etiology. In summary, clinical suspicion, a history of epilepsy supported by an EEG (best if prolonged) allow early diagnosis and treatment.

Introducción: El Estado Epiléptico (EE) es una emergencia médica con alta morbimortalidad. El Estado Epiléptico No Convulsivo (EENC) es definido por la presencia de crisis electroencefalograficas en ausencia de crisis motoras clínicas. Objetivo: Realizar una descripción retrospectiva de los EENC que se presentaron en la población pediátrica atendida en nuestro centro. Pacientes y Método: Se revisaron los registros de 30 pacientes controlados neurología infantil que presentaron EENC entre diciembre de 1999 y junio de 2008. Según el tipo de crisis se clasificó en a) EENC ausencia típica; b) EENC ausencias atípicas y c) EENC parcial complejo. Según etiología se uso la clasificación de Hauser modificada. Resultados: Se analizaron 30 pacientes. Quince (50%) varones. La mediana de edad fue 46 meses. 63% fueron EENC parcial complejo, 30% EENC ausencias atípicas y 7% EENC ausencias típicas. El EE criptogénico fue el más frecuente (47%). La mortalidad fue de 3%. Discusión: Los pacientes pediátricos tienen mayor riesgo de EENC en relación a los adultos. La gran mayoría de los pacientes con EENC ya tenían el diagnóstico de epilepsia. Los infartos cerebrales fueron la segunda causa de EENC, estos deben ser monitorizados con EEG ante la sospecha de EENC. Las neuroimágenes para precisar el diagnóstico son de gran valor dado que el pronóstico de los pacientes con EENC depende de la etiología subyacente. En conclusión, la sospecha clínica, el antecedente de epilepsia y el apoyo con un EEG, especialmente prolongado, permite el diagnóstico oportuno y el tratamiento precoz.