How-to conduct a systematic literature review: A quick guide for computer science research.

Performing a literature review is a critical first step in research to understanding the state-of-the-art and identifying gaps and challenges in the field. A systematic literature review is a method which sets out a series of steps to methodically organize the review. In this paper, we present a guide designed for researchers and in particular early-stage researchers in the computer-science field. The contribution of the article is the following:•Clearly defined strategies to follow for a systematic literature review in computer science research, and•Algorithmic method to tackle a systematic literature review.

SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.

Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant disorder with febrile or afebrile seizures that exhibits phenotypic variability. Only a few variants in SCN1A have been previously characterized for GEFS+, in Latin American populations where studies on the genetic and phenotypic spectrum of GEFS+ are scarce. We evaluated members in two multi-generational Colombian Paisa families whose affected members present with classic GEFS+. Exome and Sanger sequencing were used to detect the causal variants in these families. In each of these families, we identified variants in SCN1A causing GEFS+ with incomplete penetrance. In Family 047, we identified a heterozygous variant (c.3530C > G; p.(Pro1177Arg)) that segregates with GEFS+ in 15 affected individuals. In Family 167, we identified a previously unreported variant (c.725A > G; p.(Gln242Arg)) that segregates with the disease in a family with four affected members. Both variants are located in a cytoplasmic loop region in SCN1A and based on our findings the variants are classified as pathogenic and likely pathogenic, respectively. Our results expand the genotypic and phenotypic spectrum associated with SCN1A variants and will aid in improving molecular diagnostics and counseling in Latin American and other populations.

Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.

PURPOSE: Our purpose was to describe the phenotypic features and test for association of genes GRIN2A, RBFOX1 and RBFOX3 with rolandic epilepsy in patients from Colombia. METHODS: Thirty patients were enrolled. A structured interview was applied. In addition, saliva samples were collected from the patients and their parents. One polymorphism in each of GRIN2A, RBFOX1 and RBFOX3 genes was tested. RESULTS: The average age at onset was 5.3 years. Almost half the sample presented prolonged seizures (>5 minutes); although the majority of the patients presented their seizures only while asleep, over a quarter presented them only while awake. The most frequent comorbidity was the presence of symptoms compatible with attention-deficit hyperactivity disorder (ADHD). Personal history of febrile seizures and parasomnias were equally frequent (20%). Family history of any type of epilepsy was reported in 80% of the patients, followed by migraine (73.3%) and poor academic performance (63.3%). About half the sample reported sleepwalking in parents or sibs. Most patients had received pharmacologic treatment. We found no association of rolandic epilepsy with the single nucleotide polymorphisms tested. CONCLUSIONS: Our rolandic epilepsy cohort presents clinical features clearly different from other cohorts. For instance, age at onset is much earlier in our set of patients, and personal and family history of febrile seizures as well as parasomnias are highly prevalent in our sample. No association of rolandic epilepsy with variants at the 3 genes tested was found. This lack of association may reflect the high genetic heterogeneity of the epilepsies.

Combining Gamma With Alpha and Beta Power Modulation for Enhanced Cortical Mapping in Patients With Focal Epilepsy.

About one third of patients with epilepsy have seizures refractory to the medical treatment. Electrical stimulation mapping (ESM) is the gold standard for the identification of "eloquent" areas prior to resection of epileptogenic tissue. However, it is time-consuming and may cause undesired side effects. Broadband gamma activity (55-200 Hz) recorded with extraoperative electrocorticography (ECoG) during cognitive tasks may be an alternative to ESM but until now has not proven of definitive clinical value. Considering their role in cognition, the alpha (8-12 Hz) and beta (15-25 Hz) bands could further improve the identification of eloquent cortex. We compared gamma, alpha and beta activity, and their combinations for the identification of eloquent cortical areas defined by ESM. Ten patients with intractable focal epilepsy (age: 35.9 ± 9.1 years, range: 22-48, 8 females, 9 right handed) participated in a delayed-match-to-sample task, where syllable sounds were compared to visually presented letters. We used a generalized linear model (GLM) approach to find the optimal weighting of each band for predicting ESM-defined categories and estimated the diagnostic ability by calculating the area under the receiver operating characteristic (ROC) curve. Gamma activity increased more in eloquent than in non-eloquent areas, whereas alpha and beta power decreased more in eloquent areas. Diagnostic ability of each band was close to 0.7 for all bands but depended on multiple factors including the time period of the cognitive task, the location of the electrodes and the patient's degree of attention to the stimulus. We show that diagnostic ability can be increased by 3-5% by combining gamma and alpha and by 7.5-11% when gamma and beta were combined. We then show how ECoG power modulation from cognitive testing can be used to map the probability of eloquence in individual patients and how this probability map can be used in clinical settings to optimize ESM planning. We conclude that the combination of gamma and beta power modulation during cognitive testing can contribute to the identification of eloquent areas prior to ESM in patients with refractory focal epilepsy.

Atypical manifestations of sarcoidosis in a Hispanic male.

Sarcoidosis is a multisystem granulomatous disease of unknown etiology that can present with nonspecific features, often resulting in delayed diagnosis. The diagnosis requires the demonstration of non-caseating granulomas on biopsy. While the prevalence of sarcoidosis in the USA is rare, the disease is rarer yet in Hispanics. It is for this reason that we report herein the case of a Hispanic gentleman with a unique clinical manifestations of sarcoidosis. With what began as a two-month history of joint pain and skin rash, this 55-year-old man was hospitalized with multiple joint pain, weight loss, fatigue and a pruritic rash with leonine facies in the setting of anemia, leukopenia, hypercalcemia, elevated serum creatinine, and urine Bence-Jones proteinuria. CT imaging of the chest was nonspecific, but skin biopsy revealed non-caseating granulomatous disease. After completing an infectious and malignancy evaluation, the patient was diagnosed with sarcoidosis, which was treated successfully with low-dose steroid therapy.

Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy.

BACKGROUND: Sleep deprivation commonly increases seizure frequency in patients with genetic generalized epilepsy, though it is unknown whether there is an increased prevalence of sleepwalking or sleep paralysis in genetic generalized epilepsy patients. Establishing this could provide insights into the bio-mechanisms or genetic architecture of both disorders. The aim of this study was to determine the prevalence of sleepwalking and sleep paralysis in a cohort of patients with genetic generalized epilepsy and their relatives in extended families. METHODS: A structured interview based on International League Against Epilepsy (ILAE) and International Classification of Sleep Disorders (ICSD-3) criteria was applied to 67 index cases and their relatives to determine genetic generalized epilepsy subtypes and assess the occurrence of sleepwalking or sleep paralysis. Bivariate analysis was performed using chi-square and Fisher exact tests. RESULTS: The prevalence of sleepwalking and sleep paralysis was 15.3% (95% confidence interval 12.1-18.9) and 11.7% (95% confidence interval 8.7-15.3), respectively. Unusually, no sleepwalkers were found among individuals displaying epilepsy with generalized tonic-clonic seizures. Approximately a quarter of the patients had either parasomnia or genetic generalized epilepsy. Over half the genetic generalized epilepsy families had at least 1 individual with sleepwalking, and more than 40% of the families had one individual with sleep paralysis. CONCLUSION: The prevalence of sleepwalking or sleep paralysis is reported for individuals with genetic generalized epilepsy and their relatives. The co-existence of either parasomnia in the genetic generalized epilepsy patients and the co-aggregation within their families let suggest that shared heritability and pathophysiological mechanisms exist between these disorders. We hypothesize that sleepwalking/sleep paralysis and genetic generalized epilepsy could be variable expression of genes in shared pathways.

Glucocorticoid-Induced Myopathy in a Patient with Systemic Lupus Erythematosus (SLE): A Case Report and Review of the Literature.

BACKGROUND Chronic intake of high-dose corticosteroids is associated with multiple adverse clinical effects, including hypertension, insulin resistance, impaired wound healing, immunosuppression, myopathy, and osteoporosis. In cases of autoimmune disease, use of steroid-sparing treatment modalities is preferred over chronic steroid therapy to limit these side effects. Glucocorticoid-induced myopathy is a less common side effect of chronic steroid use in patients treated with <10 mg/day of prednisone. However, doses exceeding 40-60 mg/day can induce clinically significant myopathy and weakness. CASE REPORT A 35-year-old woman with a past medical history of hypothyroidism, systemic lupus erythematosus (SLE), and end-stage renal disease secondary to lupus nephritis, on hemodialysis, presented to the local emergency department with progressive bilateral proximal lower extremity weakness. Three months before admission, when her insurance company prematurely discontinued her monthly cyclophosphamide injections, at which time, she was treated with prednisone 60 mg daily. Two months before hospital admission, she reported increasing fatigue, weight gain, difficulty in standing from a seated position and climbing stairs. CONCLUSIONS Elucidating the etiology of progressive neuromotor deficit in immunosuppressed patients can be difficult. The management of SLE and other autoimmune diseases with chronic high-dose steroids is associated with recognized side effects. Differentiating natural disease progression from iatrogenic etiologies is important in this subset of patients, particularly to reduce prolonged clinical management and hospital admissions.

Prevalence and Clinical Characteristics of the Restless Legs Syndrome (RLS) in Patients Diagnosed with Attention-Deficit Hyperactivity Disorder (ADHD) in Antioquia.

INTRODUCTION: Attention Deficit Hyperactivity Disorder (ADHD) is the most common behavioral issue for children. One of the sleeping disorders most frequently related to ADHD is the Restless Legs Syndrome (RLS), characterized by an irresistible urge to move the legs, something that is generally associated with paresthesias and motor restlessness. The prevalence rate of RLS in children diagnosed with ADHD is close to 18%, but in Colombia, these cases have been hardly studied. OBJECTIVE: To determine the frequency of RLS, in children with ADHD. METHODS: A cross-sectional study, filled out by parents of children diagnosed with ADHD, were analyzed. This questionnaire contained clinical criteria for classifying ADHD according to the DSM-IV, as well as diagnostic criteria for RLS by the National Institutes of Health (2003). RESULTS: A predominance rate of 65.6% in combined ADHD was observed in children with RLS criteria. Upon carrying out an exploratory data analysis, it was found that having a family history of RLS and belonging to the middle or low socioeconomic strata are conditions associated with the presence of RLS in children with ADHD, with a significant p (p < 0.000) and a PR of 4.47 (3.16-6.32). CONCLUSIONS: The prevalence of RLS was similar to the findings of other clinical investigations. However, it highlights new prevalence values in relation to the comorbidity between ADHD and RLS, suggesting the need for new clinical and therapeutic alternatives amidst the presence of both syndromes.

INTRODUCCIÓN: El trastorno de hiperactividad con déficit de atención (TDAH) es el problema de comportamiento más común en la infancia. Uno de los trastornos de sueño que más se ha relacionado el TDAH es el síndrome de piernas inquietas (SPI) el cual conlleva un deseo irresistible de mover las piernas que, en general, se asocia con parestesias e inquietud motora. La prevalencia del SPI en la población infantil diagnosticada con TDAH es de cerca del 18 %. Sin embargo, en Colombia han sido escasamente estudiados. OBJETIVO: Determinar la frecuencia de SPI en niños con TDAH. MÉTODO: se realizó un estudio de corte transversal, con el uso de cuestionarios diligenciados por los padres de niños con diagnóstico de TDAH. Dicho cuestionario contenía criterios clínicos para la clasificación del TDAH según el DSM-IV, y criterios diagnósticos para SPI del National Institutes of Health pediatric restless legs syndrome (2003). RESULTADOS: Los niños con criterios de SPI tuvieron predominio del TDAH combinado en un 65.6%. Al realizar el análisis exploratorio se encontró que tener historia familiar de SPI y estrato medio o bajo se asocian con la presencia del SPI en niños con TDAH, con una p significativa (p < 0.000) y una RP de 4.47 (3.16-6.32). CONCLUSIONES: La prevalencia de SPI fue similar a los hallazgos de otras investigaciones clínicas, sin embargo, resalta nuevos valores de prevalencia en relación a la comorbilidad entre el TDAH y el SPI, sugiriendo la necesidad de habilitar nuevas alternativas clínicas y terapéuticas en la presencia de ambos síndromes.

Accuracy of the Babinski sign in the identification of pyramidal tract dysfunction.

BACKGROUND: The extensor plantar response described by Joseph Babinski (1896) indicates pyramidal tract dysfunction (PTD) but has significant inter-observer variability and inconsistent accuracy. The goal of this study was to determine the accuracy of the Babinski sign in subjects with verified PTD. METHODS: We studied 107 adult hospitalized and outpatient subjects evaluated by neurology. The reference standard was the blinded and independent diagnosis of an expert neurologist based on anamnesis, physical examination, imaging and complementary tests. Two neurologists elicited the Babinski sign in each patient independently, blindly and in a standardized manner to measure inter-observer variability; each examination was filmed to quantify intra-observer variability. RESULTS: Compared with the reference standard, the Babinski sign had low sensitivity (50.8%, 95%CI 41.5-60.1) but high specificity (99%, 95%CI 97.7-100) in identifying PTD with a positive likelihood ratio of 51.8 (95%CI 16.6-161.2) and a calculated inter-observer variability of 0.73 (95%CI 0.598-0.858). The intraevaluator reliability was 0.571 (95%CI 0.270-0.873) and 0.467 (95%, CI 0.019-0.914) respectively, for each examiner. CONCLUSION: The presence of the Babinski sign obtained by a neurologist provides valid and reliable evidence of PTD; due to its low sensitivity, absence of the Babinski sign still requires additional patient evaluation if PTD is suspected.

Satisfacción con la vida, bienestar psicológico y social como predictores de la salud mental en ecuatorianos / Satisfaction with Life, Psychological and Social Well-being as Predictors of Mental Health in Ecuadorians

Resumen Se indaga sobre la predictibilidad de la Satisfacción con la vida y el Bienestar Psicológico y Social en la Salud Mental en una muestra de estudiantes universitarios del Ecuador a través de un análisis descriptivo de predicción, comparativo por sexo y universidad. Es un estudio de corte transversal en el que participaron 982 estudiantes de tres universidades de Cuenca y Ambato, en Ecuador. Se encontró que el bienestar subjetivo, psicológico y social predicen el 55.1% de explicación de la varianza de Salud Mental. Además, existen diferencias por género en la Satisfacción con la vida (t = -1.98; p < .05) y el Bienestar Social (t = -2.34; p < .05), en este último las mujeres puntúan más que los hombres. También hay diferencias por el tipo de universidad en la Satisfacción con la vida (t = -3.11; p < .01), el Bienestar Psicológico (t = -3.21; p < .01) y la Salud Mental (t = -2.22; p < .05) con mejores puntajes en la universidad cofinanciada. Con estos elementos, se concluye que los distintos indicadores del bienestar individual predicen considerablemente la salud mental.

Abstract The predictability of Satisfaction of the Life and the Psychological and Social well-being in Mental Health in a sample of university students from Ecuador is explored through a descriptive analysis of prediction, comparative by sex and university; and of cross section in which 982 students participated from three universities from Cuenca and Ambato in Ecuador. It was found that subjective, psychological and social well-being predict 55.1% of explination of the Mental Health variance. Further, there are differences by gender in Satisfaction with life (t = -1.98; p < .05) and Social Welfare (t = -2.34; p < .05) in which women score more than men; and by the type of university in the Satisfaction with the life (t = -3.11; p < .01), the Psychological Well-being (t = -3.21; p < .01) and the Mental Health (t = -2.22; p < .05) with better scores in the co-financed university. With these elements, it is concluded that the different indicators of individual well-being significantly predict mental health.

Polysomnographic evaluation of uninfected babies born to human immunodeficiency virus type 1 positive mothers / Evaluación polisomnográfica de bebés no infectados nacidos de madres VIH-1 positivas

Introduction: Type 1 human immunodeficiency virus (HIV-1) is a lymphotropic and neurotropic retrovirus. Thus, it causes immunological and neurological alterations particularly in children. In the neonatal period the maturational changes of the central nervous system occur rapidly, and their alteration can be reflected in processes such as the sleep-awake pattern. Objective: To evaluate sleep organization, EEG and respiratory pattern in newborns to HIV-1 positive mothers. Methods: 22 infants underwent polysomnography. Delta brushes number in REM and NREM sleep, duration of interburst interval and interhemispheric synchrony were used to calculate EEG maturation. Analysis of the sleep architecture was based on polysomnographic sleep percentage of REM, NREM and transitional sleep to total sleep time. Results: The difference between electroencephalographically calculated and clinically calculated conceptional age was less than two weeks. Percentages of REM and NREM sleep ranged from 39-64 and 30-58 with a median of 52.5 and 36.5 respectively. Concordance was lower in newborns who had high transitional sleep percentages, compared to that in newborns who did not have high such characteristic (p<0.05). Discussion: Despite intrauterine exposure to HIV-1 and to antiretroviral drugs we did not observe a significant effect on EEG maturation. The decreased concordance in newborns with high transitional sleep percentages would suggest an alteration in the maturation process, but this aspect itself is not sufficient to consider that intrauterine exposure to HIV-1 and antiretrovirals affect the entire sleep architecture. Future studies should clarify whether the decreased concordance between behavior and NREM sleep is replicable.

Introducción: el virus de la inmunodeficiencia humana tipo 1 (VIH-1) es un retrovirus linfotrópico y neurotrópico. Esta característica genera alteraciones inmunológicas y neurológicas particularmente en niños. Durante el período neonatal la maduración del sistema nervioso central ocurre rápidamente, y su alteración puede perturbar diferentes aspectos del desarrollo tales como el ciclo sueño-vigilia. Objetivo: evaluar la organización del sueño y el patrón electroencefalográfico y respiratorio en recién nacidos VIH-1 negativos hijos de madres VIH-1 positivas. Métodos: se les hizo polisomnografía a 22 infantes. Se calculó la maduración electroencefalográfica usando el número de ondas delta en sueño REM y NREM, la duración del intervalo interespigas y la sincronía interhemisferica. Se analizó la arquitectura del sueño con base en el porcentaje de sueño REM, NREM y sueño transicional con relación al tiempo total de sueño. Resultados: la diferencia entre la edad electroencefalográfica y la edad concepcional calculada fue menor de dos semanas. El rango del porcentaje de sueño REM y NREM fue 39-64 y 30-58 y la media fue de 52,5 y 36,5, respectivamente. La concordancia en los recién nacidos con alto porcentaje de sueño transicional fue menor comparada con la de los neonatos con menor porcentaje de sueño transicional (p<0,05). Discusión: a pesar de la exposición intrauterina al VIH- 1 y a los antirretrovirales, no se evidenciaron cambios significativos en la maduración electroencefalográfica. La disminución de la concordancia en neonatos con alto porcentaje de sueño transicional podría sugerir una alteración en el proceso de maduración, pero este aspecto en particular no es suficiente para considerar que la exposición intrauterina al VIH-1 y a los antirretrovirales afecta toda la arquitectura del sueño. Estudios posteriores deberían aclarar si la disminución entre la concordancia, el comportamiento y el porcentaje de sueño NREM es duplicable.

Evolución a largo plazo de los niños con diagnóstico de síndrome nefrótico atendidos en el Hospital Universitario San Vicente de Paúl, Medellín, entre enero de 1960 y diciembre de 2009 / Long-term follow-up of pediatric patients with nephrotic syndrome treated at Hospital Universitario San Vicente de Paúl (Medellín (HUSVP), Colombia), between January 1960 and December 2009

Introducción: el síndrome nefrótico (SN) es una de las enfermedades glomerulares más frecuentes en la infancia y son pocos los estudios realizados en Colombia sobre esta enfermedad. Objetivo: describir las características clínicas y epidemiológicas de los niños con SN atendidos en el Hospital Universitario San Vicente de Paúl, de Medellín, Colombia, entre los años 1960-2009. Metodología: estudio descriptivo retrospectivo. Resultados: el 87,9% de los pacientes fueron corticosensibles, entre 1,7%-5,4% se tornaron corticorresistentes. La histopatología predominante fue la del síndrome nefrótico con cambios mínimos (43,6%) seguida por la glomeruloesclerosis focal y segmentaria (37,3%). El 40% requirieron inmunosupresión adicional; en 88,8% de estos se utilizó ciclofosfamida con remisión en 85,7%. Se presentaron complicaciones en 56% y 52% de ellas fueron infecciosas. El 9% de los pacientes llegaron a la insuficiencia renal crónica. La tasa de mortalidad fue del 5,7%. Discusión: esta es una de las series más grandes de pacientes con SN reportadas hasta el momento y con un período de seguimiento de hasta 35 años, lo que aporta información valiosa sobre el comportamiento local de la enfermedad y la respuesta al tratamiento inmunosupresor, El seguimiento a largo plazo de estos pacientes es fundamental para ofrecer el mejor tratamiento disponible y nos plantea nuevos interrogantes sobre la evolución del SN en nuestra población.

Introduction: Nephrotic syndrome (NS) is a glomerular disease that frequently affects children. There have been few studies on it in Colombia. Objective: To describe the clinical and epidemiological features of children with SN treated at HUSVP between 1960 and 2009. Methodology: Retrospective and descriptive study. Results: Steroid-sensitive nephrotic syndrome was diagnosed in 87.9% of the patients, and between 1.7%-5.4% turned steroid-resistant. Biopsies revealed disease with minimal changes in 43.6% and focal segmental glomerulosclerosis in 37.3%. Additional immunosuppressive therapy was required by 40% of the patients; in 88.8% of these, cyclophosphamide was used, and remission was achieved in 85.7%. In 56% of the cases there were complications that were infectious in 52%. Nine percent of the patients progressed to end-stage renal disease. Mortality rate was 5.7%. Discussion: The large number of patients with nephrotic syndrome studied in this series and the long period of follow-up (up to 35 years) provide valuable information about the clinical behavior of this syndrome in Colombia and on its response to immunosuppressive therapy.

Incidencia de meningitis en lactantes con crisis febriles simples. Experiencia en un hospital de 3er nivel / Incidence of meningitis in infants with simple febrile seizures. Experience in a 3th level hospital

IINTRODUCCIÓN. Se denominan convulsiones febriles (CF) simples aquellas crisis generalizadas, autolimitadas, de menos de 15 minutos de duración, sin recurrencia en las primeras 24 horas y sin alteración neurológica postictal. Las CF constituyen el cuadro convulsivo más frecuente en niños menores de 5 años y se caracterizan por ser eventos benignos y autolimitados. Aproximadamente 2-4% de los niños tienen al menos una CF en algún momento de la vida. OBJETIVO. Determinar la incidencia de meningitis en niños menores de 18 meses de edad con un primer episodio de convulsión febril simple. MATERIAL Y MÉTODOS. Revisión retrospectiva de historias clínicas de pacientes entre 3 y 18 meses que consultaron a urgencias del Hospital Universitario San Vicente Fundación (HUSVF), en Medellín, por un primer episodio de convulsión febril simple, entre 2006 y 2011. RESULTADOS. Se revisaron 286 registros de pacientes con diagnóstico de convulsión febril, 79 (27%) correspondían a CF simple. 50 niños (63%) tenían menos de 12 meses, Se realizó punción lumbar en 45 (57%), y se identificaron 6 casos con pleocitosis, uno de los cuáles fue considerado meningitis bacteriana y tres como meningitis aséptica. Dos casos adicionales se consideraron meningitis parcialmente tratada. Los niños con meningitis o meningitis parcialmente tratada tenían sígnos clínicos sospechosos, habían recibido antibióticos o tenía vacunación incompleta. CONCLUSIÓN. La meningitis en niños con CF simple es poco frecuente y los casos sospechosos pueden detectarse con los criterios de la Academia Americana de Pediatría; si se realiza punción lumbar a niños que han recibido antibióticos, con vacunas incompletas o con signos clínicos neurológicos. La punción lumbar no debe ser rutinaria en casos de CF. Debe estudiarse el perfil epidemiologico de las de las infecciones por neumococo en Colombia, luego de la inclusión de la vacuna de 10 serotipos, para determinar su efecto en el riesgo de meningitis.

INTRODUCCTION. Febrile seizures (FS) are defined as generalized, self limited crisis lasting less than 15 minutes with no recurrence in 24 hours and without neurological inpairment in the post ictal period. FS are the most common cause for convulsions in patients less than 5 years old. These type of crisis are benign and self-limited . FS Lifetime incidence has been calculated between 2-4% in pediatric population. OBJECTIVE. To determine the inicidence of meningitis in children under 18 months with first simple febrile seizure (FS). Materials and METHODS. A retrospective review of medical records of patients 3 to 18 months of age who visited the emergency room at the Hospital Universitario San Vicente Fundación (HUSVF) after first episode of simple febrile seizure (FS), between January 2005 and December 2010. RESULTS. We analized 286 clinical records of patients between 3 and 18 months of age with febrile seizures, 79 (27%) were considered a single FS. Fifty-patients were under 12 months of age (63%). Lumbar puncture was performed in 45 children (57%) and there were 6 children with pleocytosis, one of them was considered as bacterial meningitis, and three as aseptic meningitis. Two cases had diagnosis of partially treated meningitis. Children with suspected meningitis had abnormal neurological signs, had previously received antibiotics or had incomplete vaccination. CONCLUSION. Meningitis in children with simple FS is not frequent and all cases could be detected according to the criteria of the American Academy of Pediatrics to perform lumbar puncture in children who previously received antibiotics, had incomplete vaccination or have positive neurological signs. Routine lumbar puncture in children with simple CF must be discouraged. The current state of pneumococcal infections in Colombia after implementation of immunization 10 serotypes vaccine must be assessed, in order to know the effect of vaccination status on the risk of meningitis in children with FS.

Colombia y las migraciones internacionales. Evolución reciente y panorama actual a partir de las cifras / Colombia and international migration: recent developments and current panorama based on statistics

El presente trabajo muestra, desde las cifras, un panorama de la situación colombiana actual respecto a las migraciones internacionales, con énfasis en la emigración, que en el contexto analizado tiene el mayor peso, privilegiando la información oficial, tanto nacional como de los países de destino de los colombianos, acopiada en algunos casos por organismos intergubernamentales. De igual manera, se presenta información tendiente a la comprensión sobre los comportamientos históricos de las cifras, a través de los cuales se ha llegado a esa situación actual, tomando como referencia las últimas décadas, remontándose, según las necesidades y la disponibilidad de datos, hasta los años 50 del siglo XX, pero afinando la mirada en lo ocurrido durante el siglo en curso.(AU)

This work presents, based on statistics, an overview of the current Colombian situation in relation to international migration, focusing on emigration, which has the greatest impact in the analyzed context. The article favors official data, both national and from the destination countries of Colombians, collected, in some cases, by intergovernmental organizations. The article also presents informationin order to explain the historical behavior of these statistics, which led to the current situation. The last decades are taken as a reference, when needed and according to availability of data, until the 1950s, but the main focus is on the current century.(AU)

Fístulas carótido-cavernosas: resultados clínico y angiográfico de los pacientes tratados por el Grupo de Neurorradiología del Hospital Universitario San Vicente de Paúl, 1995-2007, Medellín, Colombia / Carotid-cavernous fistulae: Clinical and angiographic results in patients treated by the Neuro-radiology Group at a third-level University Hospital in Medellín, Colombia, 1995-2007

Introducción: las fístulas carótido-cavernosas son frecuentes en Medellín, Colombia, y su tratamiento quirúrgico se asocia a tasas elevadas de complicaciones debido a las características anatómicas peculiares de esta zona; por ello la terapia endovascular ha surgido como la primera opción de tratamiento para los pacientes con este trastorno. Objetivo: describir las principales características de un grupo de pacientes con fístulas carótido-cavernosas, el procedimiento terapéutico empleado y los resultados clínicos y angiográficos obtenidos. Pacientes y métodos: se revisaron retrospectivamente las historias clínicas de 51 pacientes tratados por el grupo de Neurorradiología del Hospital Universitario San Vicente de Paúl, entre los años 1995 y 2007. Se tuvieron en cuenta algunas variables demográficas, la etiología de la fístula, el estado clínico inicial y final, el tipo de fístula, el método terapéutico empleado y los resultados angiográficos. Resultados: se encontró un total de 51 pacientes, tres de ellos con fístulas bilaterales para un total de 54 fístulas; sin embargo, las fístulas de dos pacientes se resolvieron espontáneamente y la de otro se resolvió con masaje carotídeo. Por ello el tratamiento endovascular se hizo en solo 48 pacientes. El promedio de edad fue de 35 años, con predominio del sexo masculino (74,5%). Las fístulas fueron traumáticas en 47 pacientes (92,2%), y espontáneas en cuatro (7,8%); de los 47 pacientes con fístulas traumáticas, en 33 (70,2%) se originaron por trauma cerrado, en 12 (25,5%) por heridas con arma de fuego, y en dos (4,3%) por herida con arma cortopunzante. Las manifestaciones clínicas encontradas en orden descendente de frecuencia fueron: quemosis, proptosis, soplo, dolor, disminución de la agudeza visual y sangrado intracraneal. Según la clasificación de Barrow, las fístulas fueron de tipo A en el 86,0% de los casos, de tipo B en el 9,8%, de tipo C en el 1,9% y de tipo D en el 1,9%...

Introduction: Carotid-cavernous fistulae are frequently found in Medellín, Colombia and their surgical treatment associates with a high rate of complications due to the peculiarities of this anatomic zone. Endovascular therapy has become the first option in patients with these lesions. Objective: to describe the main demographic, clinical and angiographic features of a group of patients with carotid-cavernous fistulae, the therapeutic approach used in them, and the results obtained from the clinical and angiographic standpoints. Patients and methods: We reviewed the clinical charts of 51 patients treated by the Neuro-radiology Group at Hospital Universitario San Vicente de Paúl, in Medellín, Colombia, between 1995 and 2007. The following information was taken into account: demographic variables, etiology, initial and final clinical situation, therapeutic procedures, and angiographic results. Results: A total of 51 patients were found, three of which had bilateral lesions. Two patients had spontaneous resolution of their fistulae and in one more it resolved with carotid massage. Endovascular treatment was therefore carried out in only 48 patients. Average age was 35 years, and 74.5% of the patients were males. Fistulae were traumatic in 47 patients (92.2%) and spontaneous in four (7.8%). Out of the 47 traumatic fistulae, 33 (70.2%) were due to closed cranio-encephalic trauma. In 12 they were produced by firearm wounds and in two they were due to wounds with sharp instruments. In decreasing order of frequency clinical manifestations were: chemosis, proptosis, murmur, pain, decreased visual acuity and intracranial bleeding. Concerning the type of fistula (Barrow classification), they were type A in 86.0%, type B in 9.8%, type C in 1.9% and type D in 1.9%...

Factores pronósticos para secuelas y mortalidad de la tuberculosis meníngea en niños / Tuberculous meningitis in chilhood: prognostic features for sequelae and mortality

La tuberculosis meníngea (TBM) es la manifestación extra- pulmonar más común de la infección por Mycobacterium tuberculosis y constituye un grave problema de salud pública en los países en desarrollo. El riesgo de progresión de tuberculosis primaria a TBM es mayor en los niños, principalmente en los menores de 5 años. Esta entidad representa el 20- 40% de todos los tipos de tuberculosis en los niños, comparada con 2.9 - 5.9% en adultos. A pesar de la terapia antituberculosa, la mortalidad y las secuelas neurológicas asociadas son muy altas. La literatura disponible acerca de los factores pronósticos, en países en desarrollo, es limitada. Los principales factores de riesgo descritos para pobre pronóstico, incluyendo mortalidad, son el estadio III de la enfermedad, el coma profundo y la edad menor de 2 años; otros factores reportados, aunque no de manera consistente en la mayoría de las series, son las proteínas en el líquido cefalorraquídeo mayores de 100 mg/dL, la hipertonía, el manejo tardío de la hidrocefalia, la presencia de infartos cerebrales, el déficit focal al ingreso, la parálisis de nervios craneales y las convulsiones. En las series publicadas de TBM en niños, la mortalidad oscila entre el 7.5 % y el 22 %. En Colombia se ha reportado una mortalidad del 17%.

Desempeño diagnóstico del cuestionario lista de síntomas del DSM IV para el tamizaje del trastorno de hiperactividad con déficit de atención (TDAH) en niños y adolescentes escolares / Diagnostic utility of the DSM IV symptoms list for screening attention-deficit hyperactivity disorder (ADHD) in children and adolescent students

Introducción. El trastorno de hiperactividad con déficit de atención (TDAH) constituye el problema neurocomportamental más común en la infancia, con prevalencia en nuestro medio de 15,8%. El diagnóstico requiere una buena anamnesis y la aplicación de numerosos test. Es indispensable conocer el rendimiento diagnóstico de estas pruebas en el proceso diagnóstico. Objetivos. Evaluar el desempeño diagnóstico del cuestionario de tamizaje para TDAH del DSM IV en población escolar. Materiales y métodos. Muestra representativa, al azar, polietápica, proporcional al tamaño de los grupos, de escolares entre 4 y 17 años. Medición en 2 etapas: primero la aplicación del formulario de tamizaje según criterios del DSM IV, luego entrevista estructurada y prueba de Conners e inteligencia, en aquellos que fueron positivos y en una muestra de los negativos. El análisis estadístico se realizó mediante Epidad versión 3.0. Resultados. Los valores de sensibilidad fueron mediocres cuando el cuestionario fue diligenciado por padres y maestros. La especificidad y el VPP del cuestionario en manos de los padres mostraron valores de 93,6% y 87,8%, respectivamente. El LR positivo fue de 8,9 cuando el tamizaje fue realizado los padres, en contraste con 1,5 cuando lo respondieron los maestros. Conclusión. Se requieren más estudios que ilustren sobre el comportamiento del cuestionario lista de síntomas del DSM IV para TDAH en diferentes escenarios, particularmente en tamizaje de un trastorno de alta prevalencia que repercute en el éxito escolar.

Introduction. Attention-deficit hyperactivity disorder (ADHD) is the most common neuro-behavioral problem in childhood, with a prevalence of 15.8% in Colombia. Diagnosis requires a good history and implementation of several tests. It is essential to know the diagnostic utility of these tests in the diagnostic process. Objetive. Evaluate the diagnostic utility of DSM IV-ADHD screening questionnaire in school population. Materials and methods. Representative, random, multistage sample, proportional to the size of the groups of school children between 4 and 17 years old. Measurement in 2 stages: first the implementation of the screening form as the DSM IV criteria; and then structured interview, Conners and intelligence tests, for those who were positive and in a negative subjects sample. Statistical analysis was performed using Epid version 3.0. Results. Sensitivity values were poor when the questionnaire was filled out by parents and teachers. The specificity and PPV of the questionnaire in the hands of the parents showed values of 93.6% and 87.8% respectively. The positive LRwas 8.9 when the screening was conducted on parents, compared with 1.5 when teachers responded. Conclusiones. Further studies are needed to illustrate utility of DSM IV-ADHD screening questionnaire in different settings, particularly in screening studies of high-prevalence populations, for a disorder which affects school success.

Evaluación de la mutación A3243G delADN mitocondrial en pacientes con subtipos específicos de migraña / Assessment of mitochondrial DNA A3243G mutation in patients with migraine specific subtypes

En algunos subtipos de migraña se ha demostrado la existencia de hiperexcitabilidad cortical y metabolismo energético cerebral anormal debido probablemente a disfunción mitocondrial. En estos pacientes es alta la sospecha sobre la existencia de mutaciones en el ADN mitocondrial implicadas como mecanismos fisiopatológicos en esta entidad. Objetivo. Identificar la mutación A3243G del ADN mitocondrial en pacientes con complicaciones de la migraña, y la migraña hemipléjica esporádica, basilar y retiniana. Material y métodos. Se realizó un estudio descriptivo-prospectivo en una serie de pacientes de consulta externa neurológica de la ciudad de Medellín, con diagnóstico de los diferentes subtipos de migraña, desde agosto de 2006 a diciembre de 2007. Resultados. Se incluyeron en el estudio 19 pacientes, 14 mujeres y 5 hombres, con edad promedio de 33,4 ± 13,5 años. De los diferentes subtipos la hemipléjica fue la más prevalente (11 pacientes), seguida de la migraña basilar (3 pacientes), el estado migrañoso (2 pacientes), la migraña retinal (2 pacientes) y el aura prolongada (1 paciente). La mutación A3243G en el ADN de leucocitos de sangre periférica, que fue la única evaluada en el estudio, no estuvo presente en ninguna de las muestras analizadas. Conclusiones. La mutación A3243G del ADN mitocondrial no está relacionada con la presentación de los diferentes subtipos en la población estudiada. Futuros estudios con mayor número de pacientes de cada sub-tipo de migraña permitirán ampliar el conocimiento sobre el papel de ésta y otras mutaciones mitocondriales en este trastorno.

Hyperexitability and abnormal brain metabolism due to mitochondrial dysfunction has been described in somespecific types of migraine. In these patients there are high suspicion of mutations in mitochondrial DNA thatare implicated as pathophysiologic mechanisms in this entity. Objective. To identify the A3243G mutation of mitochondrial DNA in patients with complications of migraine, sporadic hemiplegic migraine, basilar type migraine, retinal migraine. Materials and methods. A prospective descriptive study of a series of neurological patients in an outpatient of the city of Medellin, with a diagnosis of that subtypes, from August 2006 to December 2007. Results. This study included 19 patients, 14 women and 5 men with mean age 33.4 ± 13.54 years. Of the different subtypes hemiplegic was the most prevalent (11 patients), followed by basilar migraine (3 patients), migraine status (2 patients), retinal migraine (2 patients) and prolonged aura (1 patient). The A3243G mutation in the DNA of peripheral blood leukocytes, which was only evaluated in the study, was not found in any of the samples. Conclusions. The mitochondrial DNA A3243G mutation is not related to the presentation of different subtypes in the population studied. Future clinical trials, with a representative number of patients for each subtypes, may draw conclusions about whether the mitochondrial dysfunction caused by this and other mutations associated with the clinical presentation of this type of migraine.