[Perception of the educational environment in residents of medical specialties in Chilean universities]. / Percepción del ambiente educacional de postgrado en residentes de especialidades médicas de universidades chilenas.

BACKGROUND: The Learning Environment (LE) influences the performance of students, learning, social life, mental health, and the future of work. AIM: To assess the learning environment (LE) among medical residents of 64 specialties. MATERIAL AND METHODS: Two validated instruments "Postgraduate Hospital Education Environment Measure" (PHEEM) and "Ambulatory Care Learning Educational Environment" (ACLEEM), and open questions were answered online by 1259 residents from 15 universities. A descriptive and analytical statistical analysis and semantic deductive-inductive analyses of open questions were performed. RESULTS: LE was positive rather than negative (PHEEM of 100.5 points (79-116) and ACLEEM of 138.5 points (120-157)). An age over 32 years, male sex, studying in a private university, being in first year of residence and being in a non-surgical specialty were associated with a better PHEEM score (p < 0.05). For ACLEEM, the first year of specialty, a non-surgical specialty and studying in a private university were associated with better scores (p < 0.05). Two programs had excellent LE (Pathological Anatomy and Ophthalmology) and no specialty had a very poor performance or many problems. Aspects of teaching, clinical activities, and teachers were strengths reported by students. Aspects to improve were teaching, protected times and clinical activities. CONCLUSIONS: LE among medical specialties had more positive than negative features, but with areas that should be improved.

Percepción del ambiente educacional de postgrado en residentes de especialidades médicas de universidades chilenas / Perception of the educational environment in residents of medical specialties in Chilean universities

BACKGROUND: The Learning Environment (LE) influences the performance of students, learning, social life, mental health, and the future of work. Aim: To assess the learning environment (LE) among medical residents of 64 specialties. MATERIAL AND METHODS: Two validated instruments "Postgraduate Hospital Education Environment Measure" (PHEEM) and "Ambulatory Care Learning Educational Environment" (ACLEEM), and open questions were answered online by 1259 residents from 15 universities. A descriptive and analytical statistical analysis and semantic deductive-inductive analyses of open questions were performed. Results: LE was positive rather than negative (PHEEM of 100.5 points (79-116) and ACLEEM of 138.5 points (120-157)). An age over 32 years, male sex, studying in a private university, being in first year of residence and being in a non-surgical specialty were associated with a better PHEEM score (p < 0.05). For ACLEEM, the first year of specialty, a non-surgical specialty and studying in a private university were associated with better scores (p < 0.05). Two programs had excellent LE (Pathological Anatomy and Ophthalmology) and no specialty had a very poor performance or many problems. Aspects of teaching, clinical activities, and teachers were strengths reported by students. Aspects to improve were teaching, protected times and clinical activities. CONCLUSIONS: LE among medical specialties had more positive than negative features, but with areas that should be improved.

Desarrollo psicomotor a los 18 meses de edad cronológica en recién nacidos de pretérminos extremos: comparación entre edad cronológica y edad corregida / Psychomotor development at 18 months of chronological age in extreme preterm infants: comparison between chronological age and corrected age

En recién nacidos pretérmino extremo (RNPTE) históricamente se ha utilizado la edad corregida (ECo) en la evaluación del desarrollo psicomotor (DSM). Existe controversia en la evidencia respecto de utilidad de esta práctica y riesgo de sobrecorregir. OBJETIVOS: escribir DSM a 18 meses edad cronológica (ECr) en RNPTE, y compararlo con DSM según ECo. OBJETIVO SECUNDARIO: evaluar presencia de patologías o complicaciones de prematurez, en pacientes con retraso en algún área de DSM según ECr. Pacientes y MÉTODO: Estudio de cohorte prospectivo que incluyó RNPTE nacidos en Hospital San José entre Enero y Octubre 2016 con seguimiento en Hospital Roberto del Río. Se aplicó test de Bayley III a 18 meses de ECr y se comparó resultados con ECo. El retraso en algún área según ECr implicó una evaluación clínica neurológica. RESULTADOS: Nacieron 111 pacientes RNPTE entre enero-octubre 2016, 55 participaron del estudio. Según ECr catalogaron 30 pacientes normales y 21 en riesgo. Según ECo, 46 fueron catalogados normales y 5 en riesgo. Los 4 pacientes con retraso según ECr, persistieron en retraso al evaluar según ECo. Evaluación neurológica en pacientes con retraso evidenció trastornos neurológicos que explicaban esta condición. CONCLUSIÓN: Evaluar DSM en RNPTE a 18 meses de ECr permitiría detección de pacientes con riesgo de retraso, a diferencia de lo evaluado por Eco, que es relevante para seguimiento neurológico estrecho. Todos los RNPTE con retraso de DSM en algún área presentan un trastorno neurológico severo que lo explica y no es un desarrollo "madurativo" enlentecido de la prematurez.

In extreme preterm newborns (EPN), corrected age (CoA) has historically been used to evaluate psychomotor development (PSD). There is controversy in the evidence regarding this practice's usefulness and the risk of overcorrection. OBJECTIVE: To describe PSD at 18 months of chronological age (ChrA) in EPN and compare it with CoA. SECONDARY OBJECTIVE: to evaluate the presence of pathologies or complications of prematurity in patients with delay in any area using ChrA. PATIENTS AND METHOD: Cohort prospective study that included EPN patients born in San José Hospital between January and October 2016 with follow-up in Roberto del Río Hospital. Bayley III test was applied at 18 months ChrA and its results were compared with CoA. Delay in any area according to ChrA implied a clinical neurological evaluation. RESULTS: 111 EPN were born in San José Hospital (January-October 2016), 55 participated in the study. According to ChrA, 30 patients were cataloged as normal and 21 at risk. According to CoA, 46 were classified as normal and 5 at risk. The 4 patients with delay according to ChrA persisted in this category when evaluated with CoA. Neurological evaluation in patients with delay evidenced neurological disorders that explained this condition. CONCLUSION: Assessing PSD in EPN at 18 months ChrA allows early detection of patients with risk of developmental delay, regarding the use of CoA, with importance of a neurological follow-up of this group. All patients with delay in PSD had a severe neurological disorder that explained this delay, which was not just a slow "madurative" development of prematurity. .

Trastorno paroxístico no epiléptico en paciente referido por sospecha de epilepsia / Paroxysmal non-epileptic events in patients referred for suspicion of epilepsy

Los Trastornos Paroxísticos No Epilépticos (TPNE), son diagnóstico diferencial de crisis epilépticas. En Chile no existen reportes de frecuencia. OBJETIVO: Determinar frecuencia de TPNE en pacientes derivados por sospecha de epilepsia a Unidad de Electroencefalografía, Hospital Roberto del Río. METODOLOGÍA: Estudio observacional, transversal. Se revisó registros clínicos de pacientes derivados por sospecha de epilepsia(2012- 2014). Inclusión: paciente con TPNE, >1 mes, sin epilepsia previa. Caracterización: sexo, edad, tipo/subtipo TPNE, comorbilidades, electroencefalograma (EEG), uso fármaco antiepiléptico (FAE). Aprobado por comité de ética. RESULTADOS: Derivados 913 pacientes por sospecha de epilepsia. 36% TPNE (2,3% con epilepsia concomitante), 22% epilepsia aislada. TPNE más frecuente: escolares (31%), adolescentes (29%), femenino (52%). 30,1% hipoxia cerebral (síncope, Espasmo Sollozo); 22,4% trastornos del comportamiento (Descontrol Episódico, Crisis Psicógena no Epiléptica). 32,8% con comorbilidades no epilépticas (Trastornos psiquiátricos/neurodesarrollo). 4,3 % recibieron FAE. CONCLUSIONES: La frecuencia de TPNE en niños/adolescentes supera a la de epilepsia. Es fundamental evaluación multidisciplinaria.

Paroxysmal non-epileptic events (PNE) are differential diagnosis of epileptic seizures. In Chile, there are no reports on its frequency. OBJECTIVE: To determine the frequency of PNE in patients referred for suspicion of epilepsy to the Electroencephalography Unit of Roberto del Río Hospital. METHODOLOGY: Observational, cross-sectional study. Clinical records of patients referred for suspicion of epilepsy (2012-2014) were reviewed. Inclusion: Patient with PNE, >1 month, without previous epilepsy. Characterization: gender, age, PNE type/subtype, comorbidities, electroencephalogram, use of antiepileptic drug (AED). Approved by the ethics committee. RESULTS: 913 patients were referred for suspected epilepsy: 36% PNE (2,3% with concomitant epilepsy), 22% isolated epilepsy. PNE were more frequent in children (31%) adolescents (29%), and in females (52%). 30.1% Cerebral hypoxia (syncope, breathholding-spells); 22,4% Behavioral disorders (Episodic loss of control, Non-Epileptic Psychogenic Seizures). 32.8% non-epileptic comorbidities (Psychiatric/ neurodevelopmental disorders). 4.3% received AEDs. CONCLUSIONS: The frequency of PNE in children and adolescents exceeds that of epilepsy. A multidisciplinary medical evaluation is of the outmost importance. Keywords: Paroxysmal Non-Epileptic Disorder, Non-epileptic episodes, Epilepsy.

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma and swallowing difficulties. Electrophysiology and nerve biopsies showed a mixed axonal and demyelinating neuropathy, while muscle biopsy disclosed both neurogenic and myopathic changes with ragged red fibers, and muscle MRI showed consistent features across patients, with a peculiar concentric disto-proximal gradient of fatty replacement. We used targeted next generation sequencing and candidate gene approach to study these families. Compound biallelic heterozygous variants, p.[(Pro648Arg)]; [(His932Tyr)] and p.[(Thr251Ile),(Pro587Leu)]; [(Arg943Cys)], were found in the three patients causing this homogeneous phenotype. Our report on a subset of unrelated patients, that showed a distinct autosomal recessive childhood-onset neuromyopathy with congenital cataracts and glaucoma, expands the clinical spectrum of POLG-related disorders. It also confirms the association between cataracts and neuropathy with variants in POLG. Early onset cataract is otherwise rare in POLG-related disorders and so far reported only in a few patients with the clinical pattern of distal myopathy or neuromyopathy.

Myoclonic epilepsy in infancy: an electroclinical study and long-term follow-up of 38 patients.

PURPOSE: Myoclonic epilepsy in infancy (MEI) is characterized by brief generalized myoclonic seizures associated with generalized spike-wave paroxysms without other seizure types occurring in the first 3 years of life in developmentally normal children. In this study we analyze the electroclinical features, treatment, and outcome of 38 patients with MEI. METHODS: A retrospective chart review was conducted in 38 patients followed at the Neurology Department of the Pediatric Hospital Juan P. Garrahan in Buenos Aires, Argentina, between 1990 and 2012. KEY FINDINGS: A total of 24 boys and 14 girls were identified. The mean and median ages at seizure onset were 16 and 18 months, respectively (range 3-40 months). Ten patients (28.9%) had a family history of epilepsy, and six (15.8%) had a family history of febrile seizures. All patients had several daily brief and isolated myoclonic seizures during wakefulness and predominantly in the first two stages of sleep. Twelve children (31.5%) had reflex myoclonus, triggered by a tactile stimulus in 10 and additionally by noise and light in 2. The remaining two had photosensitive myoclonic jerks. The interictal electroencephalography (EEG) recordings evidenced generalized spike waves, polyspikes, and polyspike-wave paroxysms. The interictal EEG was normal in 12 patients. The abnormalities on the ictal EEG were similar to those on the interictal EEG. Most of the patients responded well to valproic acid. After a mean follow-up of 13.5 years, 24 patients (63%) were without treatment. At the last examination, 32 patients had normal neurologic and neuropsychological evaluations. Two patients (5.2%) had significant cognitive impairment (an IQ of 60 and 63, respectively) despite good seizure control. Four patients (10.4%) had significant learning impairment, two of whom also had attention deficit hyperactivity disorder. SIGNIFICANCE: MEI is a well-defined epileptic syndrome of unknown etiology, but likely of a genetic cause. It is self-limited and pharmacosensitive mainly to valproic acid.

Febrile infection-related epilepsy syndrome: a study of 12 patients.

PURPOSE: To analyze the electroclinical features, neuroimaging findings, treatment, and outcome of 12 patients with febrile infection-related epilepsy syndrome (FIRES). METHODS: This is a retrospective study of 12 children with FIRES with a mean time of follow-up of 6.5 years carried out at the Garrahan Hospital of Buenos Aires between 1997 and 2012. RESULTS: Eight males and four females had focal status epilepticus preceded by febrile infection with a mean age at presentation of 8.5 years. In the acute period, the treatment included antiepileptic drugs (AEDs) in all cases, immunotherapy in 10 cases, and burst-suppression coma in eight. The ketogenic diet was tried in two, plasmapheresis in one, and rituximab in one. Two patients treated with IVIG and one patient given steroids had a good response, but in this phase only three patients had a prolonged good response to IVIG and a ketogenic diet. No patients died in this period. In the chronic epilepsy phase, all children had seizures arising from neocortical regions. All patients had refractory epilepsy, and most mental retardation, and behavioral disturbances. All received different AEDs and in this phase a third patient was put on a ketogenic diet. One patient was operated without good results. Only two cases had a good outcome after 2 and 10 years of follow-up. CONCLUSION: FIRES is a well-defined severe epileptic syndrome, probably in the group of epileptic encephalopathies, characterized by focal or multifocal seizures arising from the neocortical regions with an unknown etiology. Immunoglobulin and the ketogenic diet may be considered a potentially efficacious treatment.

Encephalopathy with status epilepticus during sleep or continuous spikes and waves during slow sleep syndrome: a multicenter, long-term follow-up study of 117 patients.

PURPOSE: To retrospectively analyze the electroclinical features, etiology, treatment and prognosis of 117 patients with encephalopathy with status epilepticus during sleep (ESES) or continuous spike and waves slow sleep (CSWSS) syndrome with a long-term follow-up. METHODS: Charts of 117 patients with ESES/CSWSS syndrome followed between 1990 and 2012 were analyzed. Inclusion criteria were: (1) focal seizures or apparently generalized seizures and focal EEG epileptiform discharges; (2) further occurrence of atypical absences, and myoclonic, atonic, and/or generalized seizures; (3) cognitive impairment and/or behavior disturbances; (4) continuous spike-and-wave discharges during slow sleep in more than 85% of non-REM sleep. Patients with spike-and-wave discharges in less than 85% of slow sleep were also analyzed. KEY FINDINGS: 'Mean follow-up from onset of ESES/CSWSS was 13 years (range, 2-22 years) in the symptomatic/structural and non-idiopathic group consisting of 79 children and 10.5 years (range, 2-21 years) in the idiopathic group consisting of 38 children. The comparison of clinical findings and localization of paroxysmal EEG abnormalities (focal, multifocal, or generalized) at the different stages (before, during, and after ESES/CSWSS) and the percentage of spike-wave index during ESES/CSWSS between the symptomatic/structural and non-idiopathic and the idiopathic group was not statistically significant. SIGNIFICANCE: ESES/CSWSS syndrome is an epileptic encephalopathy with similar electroclinical findings in children with a >85% spike-wave index and those with a <85% spike-wave index. In this series of patients, the most commonly used treatments were clobazam, ethosuximide, sulthiame, alone or in combination. In refractory cases, high-dose steroids were administered. Among the AED responders, the idiopathic cases returned to normality and the structural cases returned to baseline cognitive development.

Aumento de transaminasas: una manifestación de distrofia muscular de Duchenne / Transaminases increase: a manifestation of Duchenne's muscular dystrophy

Commonly used in clinical practice, glutamic oxalacetic (GOT) and glutamic piruvic (GPT) transaminases are produced in various body tissues, including striated muscle, so their blood elevation is not due exclusively to liver disease. The objective of this study is to demonstrate the correlation between elevated creatinkinase (CK) and transaminases in patients with diagnosis of Duchenne muscular dystrophy (DMD), the most frequent neuromuscular disease in children. Patients and Method: Assessment in 61 children with diagnosis of DMD of CK, AST and ALT levels, and their correlation. Results: Aill patients had increase of CK ( = 13.363 IU/L), AST ( = 203 lU/L) and ALT ( = 194 IU/L) above normal values. The increase of transaminases related directly with the increase of CK. Conclusion: Patients with DMD have increased transaminases, so it is necessary to include this diagnostic possibility in a child with hypertransaminemia, prior to performing liver biopsy.

Las transaminasas que comúnmente se utilizan en clínica, glutámico oxalacética (GOT) y glutámico pirúvica (GPT) son producidas en varios tejidos del organismo entre los cuales se cuenta el músculo estriado, por lo que la elevación de transaminasas en sangre no es producida exclusivamente por enfermedades hepáticas. Objetivo: Demostrar la correlación entre el alza de la creatinkinasa (CK) y transaminasas en pacientes con el diagnóstico de distrofia muscular de Duchenne (DMD), la enfermedad neuromuscular más frecuente en niños. Pacientes y Método: Evaluación en 61 niños con diagnóstico de DMD de los niveles de CK, GOT y GPT y la relación entre ellos. Resultados: Todos los pacientes presentaron aumento de CK ( = 13.363 IU/L), GOT ( = 203 IU/L) y GPT ( = 194 IU/L) sobre los valores normales. El aumento de transaminasas se relacionó en forma directa con aumento de CK. Conclusiones: Los pacientes con DMD presentan transaminasas aumentadas, por lo que es necesario incluir esta posibilidad diagnóstica en niños con hipertransaminasemia, previo a realizar biopsia hepática.

Ultrasonido: una alternativa en la evaluación del diafragma en niños con distrofia muscular de Duchenne / Ultrasound, an alternative in the evaluation of the diaphragm in children with Duchenne muscular dystrophy

The outcome of children with Duchenne muscular dystrophy (DMD) depends on respiratory involvement, so a timely assessment of the diaphragm is required. We propose ultrasound (US) imaging as an alternative in the evaluation of the diaphragm in children with DMD, correlating diaphragmatic thickness and excursion values yielded by the US study with pulmonary function tests. We conducted a case-control study including 27 children, 15 controls and 12 patients. Excursion and thickness of both hemidiaphragms were measured by U.S., and spirometry was performed. The DMD group showed less excursion and a significantly higher thickness of the right hemidiaphragm; 60 percent of patients showed spirometric restrictive pattern and FEV1, FVC, PEF and PIM values were significantly lower. We found a negative trend when correlating diaphragmatic excursion with pulmonary function tests. We conclude that the US technique is suitable for screening alterations in diaphragmatic excursion and thickness in children with DMD, since it provides supporting data to pulmonary function tests.

El pronóstico de los niños con distrofia muscular de Duchenne (DMD) depende del compromiso respiratorio, siendo necesaria la evaluación oportuna del diafragma. Proponemos el ultrasonido (US) como alternativa en la evaluación del diafragma en niños con DMD, correlacionando los valores de excursión y grosor del diafragma obtenido con US, con las pruebas de función pulmonar. Realizamos un estudio de casos y controles, incluyendo 27 niños, 15 controles y 12 pacientes. Se midió excursión y grosor de ambos hemidiafragmas con US; se realizó espirometría y pimometría. El grupo DMD presentó menor excursión y grosor significativamente mayor del hemidiafragma derecho; el 60 por ciento mostró patrón restrictivo en la espirometría y los valores de VEF1, CVF, FEP y PIM fueron significativamente menores. Encontramos una tendencia negativa al correlacionar la excursión diafragmática con las pruebas de función pulmonar. Concluimos que el US es apto para pesquisar alteraciones en la excursión y grosor del diafragma en niños con DMD, apoyando las pruebas de función pulmonar.

Myotonic dystrophy in a female with myasthenia gravis.

The likelihood of coexistence in the same patient of myasthenia gravis and myotonic dystrophy has been estimated at 1 in 40 million. The case of a patient in whom both diagnoses were made is reported here. A 13-year-old girl was diagnosed with myasthenia gravis because of weakness, fluctuating fatigability, and mild difficulty with chewing and swallowing. She had ptosis, with weakness predominantly of her face, arms, and neck. Serum antibodies against acetylcholine receptors were 9.9 nmol/L. She was started on pyridostigmine, with significant clinical improvement, reassuming normal daily activities. Two years later, generalized weakness reappeared and reappraisal of her symptomatology disclosed tongue percussion and hand action myotonia. Molecular genetic analysis disclosed 550 repeats of cytosine-thymidine-guanosine triplets on the DMPK gene. Undiagnosed relatives had expansions ranging from 110 to 1000 repeats. Myotonic dystrophy is considered the most common muscular dystrophy, with highly variable clinical manifestations; mildly affected individuals may escape clinical detection. Myasthenia gravis has an estimated prevalence of 15 per 100,000. No studies on the epidemiology of these diseases have been done in Chile. Although both diseases have specific clinical and laboratory presentations, they share some features in the mode of presentation that may generate difficulty in diagnosis of both entities in the same patient.

Aspectos biológicos del desarrollo psicomotor / Biological aspects of psychomotor development

El conocimiento de los factores biológicos relacionados al desarrollo contribuye a lograr una visión crítica sobre las intervenciones disponibles para la optimización de este desarrollo o de los factores más eficaces en la prevención o tratamiento de sus alteraciones. Se revisan aspectos de la organización del sistema nervioso central, y la evidencia sobre algunos de los factores involucrados en su alteración.

Enfermedades neuromusculares en pediatría / Neuromuscular diseases in pediatrics

Las enfermedades neuromusculares (ENM) son causa frecuente de morbilidad pediátrica, con una amplia variedad de motivos de consulta, lo que dificulta en ocasiones la aproximación diagnóstica inicial. Dado que muchos de estos trastornos son causa de discapacidad progresiva en el niño, el diagnóstico oportuno es fundamental. Las herramientas más importantes en su estudio son la anamnesis y el examen clínico completo y detallado. Este abordaje eminentemente clínico permite establecer un diagnóstico sindromático, orientar hacia cuadros específicos más probables y dirigir el estudio de laboratorio. El laboratorio neuromuscular incluye una serie de exámenes que ayudan a la identificación de estos cuadros y al diagnóstico diferencial entre fenotipos comunes. Sin embargo su indicación debe ser hecha por el especialista considerando utilidad y limitaciones. Los objetivos del estudio diagnóstico son: establecer un consejo genético, definir el pronóstico aproximado, según las posibilidades terapéuticas disponibles a nivel mundial, y establecer un plan de tratamiento actualizado, orientado a mantener función, prevenir complicaciones y mejorar calidad de vida. Igualmente importante es identificar cuadros que tienen tratamiento específico y que de no tratarse tendrían consecuencias deletéreas en el desarrollo y función motora del niño.

Golpe de calor / Heat of blow

Entre las entidades patológicas relacionadas con calor, el denominado golpe de calor, tanto clásico como post ejercicio, es el más grave, representando una amenaza a la vida del paciente. Fallas en la termorregulación y alteración en los mecanismos que regulan las respuestas inflamatorias y frente al estrés, facilitan la progresión de estrés por calor a golpe de calor y contribuyen en la severidad de la injuria tisular. Los niños y adultos mayores tienen mayor riesgo de desarrollar golpe de calor. Esta entidad se define como una elevación de la temperatura corporal mayor a 40.6° C, acompañada por signos de disfunción neurológica. Las complicaciones pueden ser graves e incluyen: falla renal aguda, falla hepática, colapso cardiovascular, alteraciones hidroelectrolíticas, trombocitopenia, rabdomiolisis, coagulación intravascular diseminada y falla orgánica múltiple. El tratamiento se basa en enfriamiento inmediato, soporte de la función orgánica sistémica y prevención y manejo de complicaciones. El pronóstico se relaciona con severidad de la injuria en sistema nervioso central, e intensidad y duración de la hipertermia.

Pediatría del desarrollo y comportamiento / Pediatrics of development and behavior

En relación al mayor desarrollo sociocultural de la población, los trastornos del desarrollo y del comportamiento del niño y adolescente han tomado mayor prevalencia en la consulta pediátrica. La pediatría del desarrollo y comportamiento busca aumentar la competencia de los profesionales en la promoción de la salud mental y física de los niños y adolescentes y la prevención y manejo de los trastornos en el desarrollo. Especialmente relevante se considera el desarrollar la capacidad de lograr un diagnóstico temprano y un tratamiento efectivo de las alteraciones del desarrollo y /o comportamiento.