Contrast-induced encephalopathy in patients with advanced chronic kidney disease: What the nephrologist needs to know.

Contrast-induced encephalopathy is a neurological complication related to contrast used in endovascular procedures or computed tomography (CT). The main risk factors are arterial hypertension, diabetes mellitus, chronic kidney disease (CKD), hyperosmolar contrasts, the amount of infused contrast and its direct infusion in the posterior cerebral territory, or pathologies with blood-brain barrier damage. Symptomatology is non-specific and may present as altered level of consciousness, neurological focality or seizures. Diagnosis is done by exclusion after ischemic or hemorrhagic stroke has been ruled out; CT or MRI are useful for differentiation. Generally, it appears shortly after exposure and the symptoms lasts 48-72h with complete recovery, although cases with persistence of symptoms or longer duration have been described. Treatment consists of monitoring, supportive measures and kidney replacement therapy (KRT) with hemodialysis (HD) in patients in chronic KRT program. It is important for the nephrologist to be aware of this entity given the susceptibility of the patient on HD as well as its potential therapeutic role in these patients.

Quality assessment of clinical practice guidelines on hypoxic-ischaemic encephalopathy in newborns using the AGREE II tool: a systematic review.

INTRODUCTION: Hypoxic-ischaemic encephalopathy is a clinical syndrome of neurological dysfunction that occurs immediately after birth following an episode of perinatal asphyxia. We conducted a scoping review to assess the methodological quality of clinical practice guidelines that address this condition. METHODOLOGY: We conducted the evaluation using the AGREE II tool. High methodological quality was defined as a score greater than 70% in every domain. RESULTS: The analysis included three clinical practice guidelines; the highest scores were in the scope and purpose domain (84.26%; SD, 14.25%) and the clarity of presentation domain (84.26%; SD, 17.86%), while the lowest score corresponded to the applicability domain (62.50%; SD, 36.62%). Two guidelines were classified as high quality and one guideline as low-quality. CONCLUSIONS: Two of the assessed guidelines were classified as being of high quality; however, the analysis identified shortcomings in the applicability domain, in addition to methodological variation between guidelines developed in middle- or low-income countries versus high-income countries. Efforts are needed to make high-quality guidelines available to approach the management of hypoxic-ischaemic encephalopathy in newborns.

Código encefalopatía hipóxico-isquémica: revisión sistematizada para entornos con recursos limitados / Hypoxic-ischaemic encephalopathy code: a systematic review for resource-limited settings

Se estima que el 96% de los recién nacidos (RN) con encefalopatía hipóxico-isquémica (EHI) nacen en entornos con recursos limitados (ERL) sin capacidad para ofrecer el estándar asistencial vigente desde hace cerca de 15 años en los países con altos recursos y que incluye hipotermia terapéutica, neuromonitorización continua electroencefalográfica y resonancia magnética, además de un control intensivo de las constantes vitales y del equilibrio homeostático. Esta situación no parece estar cambiando; sin embargo y aún con estas limitaciones, el conocimiento actualmente disponible permite mejorar la asistencia de los pacientes con EHI atendidos en ERL. El propósito de esta revisión sistematizada es ofrecer, bajo el término «código EHI», recomendaciones de prácticas asistenciales basadas en evidencia científica y factibles en ERL, que permitan optimizar la atención del RN con EHI y ayuden potencialmente a reducir los riesgos asociados a la comorbilidad y a mejorar los resultados neuroevolutivos. El contenido del código EHI se agrupó en nueve epígrafes: 1) prevención de la EHI, 2) reanimación, 3) primeras seis horas de vida, 4) identificación y graduación de la EHI, 5) manejo de las convulsiones, 6) otras intervenciones terapéuticas, 7) disfunción multiorgánica, 8) estudios complementarios, y 9) atención a la familia. (AU)

It is estimated that 96% of infants with hypoxic-ischaemic encephalopathy (HIE) are born in resource-limited settings with no capacity to provide the standard of care that has been established for nearly 15 years in high-resource countries, which includes therapeutic hypothermia, continuous electroencephalographic monitoring and magnetic resonance imaging in addition to close vital signs and haemodynamic monitoring. This situation does not seem to be changing; however, even with these limitations, currently available knowledge can help improve the care of HIE patients in resource-limited settings. The purpose of this systematic review was to provide, under the term «HIE Code», evidence-based recommendations for feasible care practices to optimise the care of infants with HIE and potentially help reduce the risks associated with comorbidity and improve neurodevelopmental outcomes. The content of the HIE code was grouped under 9 headings: 1) prevention of HIE, 2) resuscitation, 3) first 6hours post birth, 4) identification and grading of encephalopathy, 5) seizure management, 6) other therapeutic interventions, 7) multiple organ dysfunction, 8) diagnostic tests and 9) family care. (AU)

Hypoxic-ischaemic encephalopathy code: A systematic review for resource-limited settings.

It is estimated that 96% of infants with hypoxic-ischaemic encephalopathy (HIE) are born in resource-limited settings with no capacity to provide the standard of care that has been established for nearly 15 years in high-resource countries, which includes therapeutic hypothermia (TH), continuous electroencephalographic monitoring and magnetic resonance imaging (MRI) in addition to close vital signs and haemodynamic monitoring. This situation does not seem to be changing; however, even with these limitations, currently available knowledge can help improve the care of HIE patients in resource-limited settings. The purpose of this systematic review was to provide, under the term "HIE Code", evidence-based recommendations for feasible care practices to optimise the care of infants with HIE and potentially help reduce the risks associated with comorbidity and improve neurodevelopmental outcomes. The content of the HIE code was grouped under 9 headings: (1) prevention of HIE, (2) resuscitation, (3) first 6h post birth, (4) identification and grading of encephalopathy, (5) seizure management, (6) other therapeutic interventions, (7) multiple organ dysfunction, (8) diagnostic tests and (9) family care.

Dopamine Dynamics in the Amygdala Influence Emotional Changes in the Early Stage of Systemic Inflammatory Response Syndrome in Rats

SUMMARY: Systemic inflammatory response syndrome (SIRS) is a potentially fatal reaction to various forms of tissue damage and infections that cause damage to various organs. Furthermore, the brain is damaged earlier than other organs, resulting in diffuse brain dysfunction. The central clinical symptom of SIRS is delirium and emotional changes are involved in disease development. Although the amygdala is known to play a major role, the mechanisms underlying emotional changes in the early stages of SIRS have not been elucidated. Therefore, changes to dopamine levels in the amygdala were observed using an in vivo model of lipopolysaccharide (LPS)- induced SIRS to clarify the biochemical mechanisms activated in the early stages of SIRS. Extracellular dopamine was collected from the amygdala of free moving rats via microdialysis and then analyzed by high-performance liquid chromatography. In addition, emotional changes were assessed with the open field and sucrose preference tests. In the LPS group, dopamine release in the amygdala increased remarkably immediately after LPS administration, peaking at 120 min. Thereafter, dopamine release temporarily decreased, but then significantly increased again after 180 min. The present results suggest that diffuse brain dysfunction in the early stages of SIRS may involve altered dopamine levels in the amygdala.

El síndrome de respuesta inflamatoria sistémica (SRIS) es una reacción potencialmente fatal a diversas formas de daño tisular e infecciones que causan injuria a varios órganos. Además, el cerebro se daña antes que otros órganos, lo que provoca una disfunción cerebral difusa. El síntoma clínico central del SIRS es el delirio y los cambios emocionales están involucrados en el desarrollo de la enfermedad. Aunque se sabe que la amígdala desempeña un papel importante, no se han dilucidado los mecanismos que subyacen a los cambios emocionales en las primeras etapas del SRIS. Por lo tanto, en el estudio se provocaron cambios en los niveles de dopamina en la amígdala utilizando un modelo in vivo de SRIS inducido por lipopolisacáridos (LPS) para dilucidar los mecanismos bioquímicos activados en las primeras etapas del SRIS. La dopamina extracelular se recogió de la amígdala de ratas en movimiento libre mediante microdiálisis y luego se analizó mediante cromatografía líquida de alta resolución. Además, se evaluaron los cambios emocionales con las pruebas de campo abierto y de preferencia de sacarosa. En el grupo de LPS, la liberación de dopamina en la amígdala aumentó de manera notable inmediatamente después de la administración de LPS, alcanzando un máximo a los 120 minutos. A partir de entonces, la liberación de dopamina disminuyó temporalmente, pero luego volvió a aumentar significativamente después de 180 min. Los resultadosactuales sugieren que la disfunción cerebral difusa en las primeras etapas del SIRS puede implicar niveles alterados de dopamina en la amígdala.

Venous congestive encephalopathy secondary to arteriovenous fistula aggravated by cerebrospinal fluid shunt.

We present a unique clinical case of venous congestive encephalopathy in the context of a cerebral arteriovenous fistula with clinical worsening secondary to valvular overdrainage. ICP monitoring, the different pressure settings of the programable CSF shunt and the detailed clinical description that is carried out offer us enough data to understand that this case provides important pathophysiological knowledge to a little-known disease.

Temperature management in acute brain injury: A narrative review.

Temperature management has been used in patients with acute brain injury resulting from different conditions, such as post-cardiac arrest hypoxic-ischaemic insult, acute ischaemic stroke, and severe traumatic brain injury. However, current evidence offers inconsistent and often contradictory results regarding the clinical benefit of this therapeutic strategy on mortality and functional outcomes. Current guidelines have focused mainly on active prevention and treatment of fever, while therapeutic hypothermia (TH) has fallen into disuse, although doubts persist as to its effectiveness according to the method of application and appropriate patient selection. This narrative review presents the most relevant clinical evidence on the effects of TH in patients with acute neurological damage, and the pathophysiological concepts supporting its use.

Presentation of Wernicke encephalopathy in patient secondary to one anastomosis gastric bypass. Case report and literature review.

Wernicke encephalopathy, which is caused by a thiamine deficiency, occurs in 0.8-2% of the population. Only 16% present the typical triad of this disease: nystagmus, confusion and ataxia. We present the case of a postoperative patient with a one anastomosis gastric bypass with reoperation undergoing a Roux-en-Y gastric bypass that begins with confusion and nystagmus on her third postoperative day. The diagnosis of Wernicke encephalopathy is made by imaging, and vitamin B1 is administered with total improvement of nystagmus and altered state of consciousness (lethargy, bradypsychia, bradylalia).

La encefalopatía de Wernicke se produce por una deficiencia de tiamina se presenta en un 0.8-2% de la población. Solo el 16% de los casos presentan la tríada típica de esta enfermedad: nistagmo, confusión y ataxia. Presentamos el caso de una paciente operada de bypass gástrico de una anastomosis con reintervención convirtiendo a bypass gástrico en Y de Roux que en su tercer día de posoperatorio comienza con confusión y nistagmo. Se realiza por imagen el diagnóstico de encefalopatía de Wernicke se administra vitamina B1 con mejoría total del nistagmo y alteración del estado de consciencia (letargia, bradipsiquia, bradilalia).

La fatiga en el daño cerebral sobrevenido / Fatigue in patients with acquired brain damage

La fatiga es un síndrome multidimensional, complejo y frecuente en los pacientes con daño cerebral sobrevenido, influyendo negativamente en el proceso de neurorrehabilitación. Aparece desde etapas tempranas luego de la lesión y puede permanecer en el tiempo, recuperadas o no las secuelas del daño. La fatiga depende de circuitos neuronales superiores y se define como una percepción anómala de sobreesfuerzo. Tiene una prevalencia de 29% a 77% tras el ictus, 18% a 75% tras el traumatismo craneoencefálico (TCE) y 47% a 97% tras tumores cerebrales. La fatiga se asocia a factores como sexo femenino, edad avanzada, familia disfuncional, antecedentes patológicos específicos, estado funcional (p. ej. fatiga previa a la lesión), comorbilidades, estado anímico, discapacidad secundaria y uso de ciertos fármacos. Su estudio se realiza sobre todo a partir de escalas como la Escala de severidad de fatiga (Fatigue Severity Scale). Hoy en día existen avances en herramientas de imagen para su diagnóstico como la resonancia magnética funcional. En cuanto a su tratamiento, no existe aún terapia farmacológica definitiva, sin embargo, existen resultados positivos con terapias dentro de la neurorrehabilitación convencional, terapia lumínica y el uso del neurofeedback, estimulación eléctrica y magnética transcraneal. Esta revisión tiene como objetivo ayudar al profesional dedicado a la neurorrehabilitación a reconocer factores asociados modificables, así como terapias a su alcance para disminuir sus efectos nocivos en el paciente. (AU)

Fatigue is a complex, multidimensional syndrome that is prevalent in patients with acquired brain damage and has a negative impact on the neurorehabilitation process. It presents from early stages after the injury, and may persist over time, regardless of whether sequelae have resolved. Fatigue is conditioned by upper neuronal circuits, and is defined as an abnormal perception of overexertion. Its prevalence ranges from 29% to 77% after stroke, from 18% to 75% after traumatic brain injury, and from 47% to 97% after brain tumours. Fatigue is associated with factors including female sex, advanced age, dysfunctional families, history of specific health conditions, functional status (eg, fatigue prior to injury), comorbidities, mood, secondary disability, and the use of certain drugs. Assessment of fatigue is fundamentally based on such scales as the Fatigue Severity Scale (FSS). Advances have recently been made in imaging techniques for its diagnosis, such as in functional MRI. Regarding treatment, no specific pharmacological treatment currently exists; however, positive results have been reported for some conventional neurorehabilitation therapies, such as bright light therapy, neurofeedback, electrical stimulation, and transcranial magnetic stimulation. This review aims to assist neurorehabilitation professionals to recognise modifiable factors associated with fatigue and to describe the treatments available to reduce its negative effect on patients. (AU)

Motor, cognitive and behavioural outcomes after neonatal hypoxic-ischaemic encephalopathy.

INTRODUCTION: The current neurodevelopmental status of patients with neonatal hypoxic-ischaemic encephalopathy (HIE) in Spain is unknown. Recent European studies highlight a shift of severe pathology towards mild motor disorders and emotional problems. The aim of this study was to analyse neurodevelopmental outcomes in a cohort of neonates with HIE at age 3 years. PATIENTS AND METHOD: Multicentre observational study of neonates born at 35 or more weeks of gestation with moderate to severe HIE in 2011-2013 in 12 hospitals in a large Spanish region (91 217 m2), with the recruitment extended through 2017 in the coordinating hospital. We analysed the findings of neonatal neuroimaging and neurodevelopmental test scores at 3 years (Bayley-III, Peabody Picture Vocabulary Test and Child Behavior Checklist). The sample included 79 controls with no history of perinatal asphyxia. RESULTS: Sixty-three patients were recruited, of whom 5 (7.9%) were excluded due to other pathology and 14 (24%) died. Of the 44 survivors, 42 (95.5%) were evaluated. Of these 42, 10 (24%) had adverse outcomes (visual or hearing impairment, epilepsy, cerebral palsy or developmental delay). Other detected problems were minor neurological signs in 6 of the 42 (14%) and a higher incidence of emotional problems compared to controls: introversion (10.5% vs. 1.3%), anxiety (34.2% vs. 11.7%) and depression (28.9% vs. 7.8%) (P < .05). The severity of the lesions on neuroimaging was significantly higher in patients with motor impairment (P = .004) or who died or had an adverse outcome (P = .027). CONCLUSION: In addition to classical sequelae, the followup of patients with neonatal HIE should include the diagnosis and treatment of minor motor disorders and social and emotional problems.

Desarrollo motor, cognitivo y conductual tras encefalopatía hipóxico-isquémica neonatal / Motor, cognitive and behavioural outcomes after neonatal hypoxic-ischaemic encephalopathy

Introducción: El neurodesarrollo actual de pacientes con encefalopatía hipóxico-isquémica (EHI) neonatal en España se desconoce. Recientes estudios europeos destacan el desplazamiento de la patología grave hacia trastornos motores leves y problemas emocionales. El objetivo de este estudio fue analizar el estado neuroevolutivo integral a los 3años de una cohorte de neonatos con EHI. Pacientes y métodos: Estudio observacional multicéntrico de neonatos ≥35 semanas de edad gestacional con EHI moderada-grave nacidos entre 2011 y 2013 en 12 hospitales de una extensa región española (91.217m2) y ampliado hasta 2017 en el hospital coordinador. Se evaluaron los estudios de neuroimagen neonatal y del neurodesarrollo a los 3años mediante Bayley-III, Peabody Picture Vocabulary Test y Child Behaviour Checklist. Se incluyeron 79 controles sin asfixia perinatal. Resultados: Se reclutaron 63 pacientes, de los cuales 5/63 (7,9%) se excluyeron por presentar otra patología, y 14/58 (24%) fallecieron. De los 44 supervivientes, 42/44 (95,5%) fueron evaluados. De ellos, 10/42 (24%) presentaron evolución adversa (alteraciones visuales o auditivas, epilepsia, parálisis cerebral [PC] o retraso del desarrollo). Adicionalmente se detectaron otras alteraciones: trastorno motor mínimo (TMM) en 6/42 (14%) y más problemas de introversión (10,5% vs 1,3%), ansiedad (34,2% vs 11,7%) y depresión (28,9% vs 7,8%) que los controles (p<0,05). La gravedad de las lesiones en neuroimagen fue significativamente mayor en pacientes con trastorno motor (PC o TMM) (p=0,004) y muerte o evolución adversa (p=0,027). Conclusiones: Además de las secuelas clásicas, el seguimiento de los pacientes con EHI neonatal debería incluir el diagnóstico y el manejo de trastornos motores mínimos y problemas emocionales.(AU)

Introduction: The current neurodevelopmental status of patients with neonatal hypoxic-ischaemic encephalopathy (HIE) in Spain is unknown. Recent European studies highlight a shift of severe pathology towards mild motor disorders and emotional problems. The aim of this study was to analyse neurodevelopmental outcomes in a cohort of neonates with HIE at age 3years. Patients and method: Multicentre observational study of neonates born at 35 or more weeks of gestation with moderate to severe HIE in 2011-2013 in 12 hospitals in a large Spanish region (91,217m2), with the recruitment extended through 2017 in the coordinating hospital. We analysed the findings of neonatal neuroimaging and neurodevelopmental test scores at 3years (Bayley-III, Peabody Picture Vocabulary Test and Child Behavior Checklist). The sample included 79 controls with no history of perinatal asphyxia. Results: Sixty-three patients were recruited, of whom 5 (7.9%) were excluded due to other pathology and 14 (24%) died. Of the 44 survivors, 42 (95.5%) were evaluated. Of these 42, 10 (24%) had adverse outcomes (visual or hearing impairment, epilepsy, cerebral palsy or developmental delay). Other detected problems were minor neurological signs in 6 of the 42 (14%) and a higher incidence of emotional problems compared to controls: introversion (10.5% vs. 1.3%), anxiety (34.2% vs. 11.7%) and depression (28.9% vs. 7.8%) (P<.05). The severity of the lesions on neuroimaging was significantly higher in patients with motor impairment (P=.004) or who died or had an adverse outcome (P=.027). Conclusion: In addition to classical sequelae, the follow-up of patients with neonatal HIE should include the diagnosis and treatment of minor motor disorders and social and emotional problems.(AU)

Fatigue in patients with acquired brain damage.

Fatigue is a complex, multidimensional syndrome that is prevalent in patients with acquired brain damage and has a negative impact on the neurorehabilitation process. It presents from early stages after the injury, and may persist over time, regardless of whether sequelae have resolved. Fatigue is conditioned by upper neuronal circuits, and is defined as an abnormal perception of overexertion. Its prevalence ranges from 29% to 77% after stroke, from 18% to 75% after traumatic brain injury, and from 47% to 97% after brain tumours. Fatigue is associated with factors including female sex, advanced age, dysfunctional families, history of specific health conditions, functional status (eg, fatigue prior to injury), comorbidities, mood, secondary disability, and the use of certain drugs. Assessment of fatigue is fundamentally based on such scales as the Fatigue Severity Scale (FSS). Advances have recently been made in imaging techniques for its diagnosis, such as in functional MRI. Regarding treatment, no specific pharmacological treatment currently exists; however, positive results have been reported for some conventional neurorehabilitation therapies, such as bright light therapy, neurofeedback, electrical stimulation, and transcranial magnetic stimulation. This review aims to assist neurorehabilitation professionals to recognise modifiable factors associated with fatigue and to describe the treatments available to reduce its negative effect on patients.

Tabla de la normalidad de las pruebas psicométricas para el diagnóstico de encefalopatía hepática subclínica en la población Dominicana / Score of normality psychometric tests for the diagnosis of subclinical hepatic encephalopathy in the Dominican Population

Introducción: La encefalopatía hepática mínima (EHM), es una enfermedad definida por la existencia de varias alteraciones neurofisiológicas, indetectables a la exploración neurológica y el examen clínico. Dentro de las estrategias diagnosticas para la EHM se contemplan las pruebas psicométricas (PHE), pero para su aplicación es indispensable la estandarización previamente en la población de estudio. Objetivo: El estudio se propuso determinar la tabla de la normalidad de las PHE para diagnosticar la encefalopatía hepática subclínica en una muestra de la población dominicana. Método: Se realizó un estudio descriptivo, prospectivo y transversal en un hospital de referencia nacional. Se analizaron 134 personas clasificados por grupos de edades (18-70 años de edad) y años de escolaridad. Se diseñó una tabla de 5x5. Se estudió la influencia de la edad, sexo, uso de espejuelo y de los años de escolarización en el rendimiento de cada uno de las PHE, para lo cual se utilizaron las siguientes pruebas estadísticas: análisis de varianza (ANOVA), prueba t de Student y regresión lineal. Resultado: La escolaridad y la edad fueron variables determinantes en el desempeño de las 5 pruebas psicométricas. Pero, la correlación univariable de la edad con el desempeño de la prueba TMS no hubo diferencias intra e inter grupos estadísticamente significativas (p>0.171). Conclusión: se confecciono la fórmula de predicción de resultados de los test psicométricos. Ninguno sobrepasó el punto de corte de la puntuación que oscila entre los -4 y los +2 puntos.

Introduction: Minimal hepatic encephalopathy (MHE) is a disease defined by the existence of several neurophysiological alterations, undetectable by neurological examination and clinical examination. Among the diagnostic strategies for EHM, psychometric tests (PHE) are contemplated, but for their application, prior standardization in the study population is essential. Objective: The study will need to determine the normality table of PHE to detect subclinical hepatic encephalopathy in a sample of the Dominican population. Method: A descriptive, prospective and cross-sectional study was carried out in a national reference hospital. 134 people classified by age groups (18-70 years of age) and years of schooling were analyzed. A 5x5 board is recommended. The influence of age, sex, use of glasses and years of schooling on the performance of each one of the PHEs was studied, for which the following statistical tests were used: analysis of variance (ANOVA), Student's t test and linear regression. Result: Schooling and age were determining variables in the performance of the 5 psychometric tests. But, the univariate coincidence of age with the performance of the TMS test, there were no statistically significant intra and inter group differences (p>0.171). Conclusion: the formula for predicting the results of the psychometric tests was made. None exceeded the cut-off point of the score that oscillates between -4 and +2 points.

Necesidades de cuidados en recién nacidos con encefalopatía hipóxico-isquémica tratados con hipotermia terapéutica / Care needs in newborns with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia

Objetivo: describir las necesidades de cuidados de Enfermería derivadas de las principales secuelas en recién nacidos (RN) diagnosticados de encefalopatía hipóxico-isquémica (EHI) y tratados con hipotermia terapéutica en el Hospital Universitario Miguel Servet de Zaragoza (España).Método: estudio descriptivo transversal con datos retrospectivos sobre 32 pacientes, mediante revisión de historias clínicas. Variables de estudio: variables sociodemográficas, clínicas (para establecer la gravedad de la EHI se utilizó la escala de García-Alix) y necesidades de cuidados enfermeros.Resultados: se estudiaron 32 pacientes. El 68,8% fue diagnosticado de EHI moderada y el 31,2% de EHI severa, con resultado de fallecimiento tras el tratamiento del 21,9%. El 31,3% sufrió aspiración de líquido meconial en el momento del parto. Un 32% tuvo alteraciones visuales, un 20% alteraciones en la integridad de la piel, un 16% problemas de eliminación y crisis epilépticas, y un 12% microcefalia. El 100% estaba escolarizado, el 12% tenía apoyo en el colegio y solamente el 4% necesitó acudir a un centro de educación especial. El 68% de las familias recibió apoyo tras el alta hospitalaria. El 56% fue incluido en un programa de atención temprana.Conclusión: la población infantil con EHI tratados con hipotermia presentan secuelas a medio-largo plazo, siendo las más relevantes las alteraciones visuales, las de la integridad de la piel, problemas de eliminación, crisis epilépticas y microcefalia. Se han de potenciar los programas de seguimiento y apoyo tras el alta para poder detectar de forma precoz los signos de alarma, así como para el acompañamiento de sus familias. (AU)

Objective: to describe the Nursing care needs derived of the main consequences in newborns (NBs) diagnosed with hypoxic-ischemic encephalopathy (HIE) and treated with therapeutic hypothermia at the Hospital Universitario Miguel Servet in Zaragoza (Spain).Method: a descriptive cross-sectional study with retrospective data about 32 patients, through clinical record review. The study variables were sociodemographic, clinical (the scale by García-Alix was used to determine the severity of GIE), and Nursing care needs.Results: thirty-two (32) patients were studied; 68.8% were diagnosed with moderate HIE and 31.2% with severe HIE, with 21.9% of death outcomes after treatment. Out of these patients, 31.3% suffered meconium fluid aspiration at the time of delivery; 32% had visual alterations, 20% had alterations in their skin integrity, 16% had elimination problems and epileptic seizures, and 12% presented microcephalia. 100% of them were enrolled in school, 12% had support at school, and only 4% needed to attend a special education centre. Regarding their families, 68% received support after discharge from hospital, and 56% were included in an early care program.Conclusion: the paediatric population with HIE treated with hypothermia presented sequels at medium-long term; the most relevant were visual and skin integrity alterations, elimination problems, epileptic seizures and microcephalia. Programs for follow-up and support after discharge from hospital must be promoted, for an early detection of warning signs, as well as for accompanying their families. (AU)

Enfermedad neurológica asociada al gen KIF1A: correlación genotipo/fenotipo / KIF1A gene-associated neurological disease: the correlation between genotype and phenotype

Introducción: La encefalopatía KIF1A-associated-neurological-disorder (KAND) es un grupo de patologías neurodegenerativas progresivas de diversa gravedad ocasionadas por mutaciones en el gen KIF1A (kinesin family member 1A) situado en el cromosoma 2q37.3. Dicho gen codifica una proteína de la familia de las cinesinas 3 que participa en el transporte anterógrado de las vesículas presinápticas dependientes del trifosfato de adenosina a través de microtúbulos neuronales. Casos clínicos: Se describen cuatro pacientes, con edades entre 1 y 13 años, con mediana de inicio de los síntomas de cinco meses (rango intercuartílico: 0-11 meses), lo que supone una prevalencia aproximada de 1 de cada 64.000 menores de 14 años para nuestra población pediátrica. Clínicamente, destacaron discapacidad intelectual, hipotonía axial y paraparesia espástica en 4/4, y síntomas cerebelosos en 2/4. Otras manifestaciones fueron incontinencia urinaria, polineuropatía sensitivomotora y alteración conductual. Destaca, en el caso 2, la alteración en el videoelectroencefalograma, que mostraba epilepsia focal con generalización secundaria y focalidad paroxística occipitoparietal posterior derecha con transmisión contralateral. También mostraba crisis oculógiras en supraversión instantáneas pluricotidianas sin correlato electroencefalográfico. Conclusiones: En nuestra serie, la encefalopatía KAND, fenotipo trastorno neurodegenerativo con retraso global del desarrollo, de la marcha y espasticidad progresiva de los miembros inferiores, atrofia cerebelosa y/o afectación de la corteza visual, fue predominante, y en uno de los casos asoció polineuropatía sensitivomotora. La mutación de novo missense fue más frecuente y en tres casos es la primera descripción conocida. Un caso mostraba epilepsia focal y crisis oculógiras no epilépticas.(AU)

Introduction: KIF1A-associated-neurological-disorder (KAND) encephalopathy is a group of progressive neurodegenerative pathologies of varying severity caused by mutations in the KIF1A gene (Kinesin family member 1A) located on chromosome 2q37.3. This gene encodes a protein of the kinesin-3 family that participates in the ATP-dependent anterograde transport of presynaptic vesicles through neuronal microtubules. Case report: Four patients are described, aged 1-13 years, with a median onset of symptoms of 5 months (IQR 0-11 months), which represents an approximate prevalence of 1 per 64,000 children under 14 years of age for our pediatric population. Clinically, intellectual disability (ID), axial hypotonia and spastic paraparesis stood out in 4/4 and cerebellar symptoms in 2/4. Other manifestations were urinary incontinence, sensory-motor polyneuropathy, and behavioral alteration. In case 2, the alteration in the video-EEG stands out, which showed focal epilepsy with secondary generalization and right posterior occipito-parietal paroxysmal focality with contralateral transmission. She also showed instantaneous pluricotidian supraversion oculogyric seizures without EEG correlates. Conclusions: In our series, KAND encephalopathy had a predominant neurodegenerative disorder phenotype with global developmental delay, gait delay, and progressive spasticity of the lower limbs, cerebellar atrophy, and/or involvement of the visual cortex, which in one case was associated with sensory-motor polyneuropathy. The de novo missense mutation was more frequent and in three cases it is the first known description. One case showed focal epilepsy and nonepileptic oculogyric seizures.(AU)

Diagnóstico por imágenes de un síndrome de Wernicke Korsakoff con estigmas de Marchiafava-Bignami / maging diagnosis of Wernicke - Korsakoff syndrome with Marchiafava-Bignami stigmat

Las enfermedades de Marchiafava-Bignami y de Wernicke Korsakoff, se consideran complicaciones neuropsiquiátricas causadas por el consumo crónico de bebidas alcohólicas. Son encefalopatías poco frecuentes caracterizadas por una desmielinización y necrosis del cuerpo calloso, con la subsiguiente atrofia por daño en las partes bajas del cerebro (tálamo e hipotálamo). Se presenta un paciente masculino de 29 años, con antecedentes de alcoholismo, el cual acude a consulta de Oftalmología por presentar disminución de la visión del ojo derecho durante un año. Se le realizaron, tomografía simple y resonancia magnética con contraste endovenoso de cráneo, donde se observaron hallazgos radiológicos compatibles con el síndrome de Wernicke Korsakoff (ocasiona afectación de la memoria y el aprendizaje) con estigmas de Marchiafava-Bignami (enfermedad poco conocida). Es necesario el dominio de la epistemología de estas enfermedades, porque, a pesar del mal pronóstico en su forma aguda, se reportan casos con buena evolución, si se le realiza un diagnóstico y tratamiento oportunos.

Marchiafava-Bignami and Wernicke-Korsakoff diseases are considered neuropsychiatric complications caused by the chronic consumption of alcoholic beverages. They are rare encephalopathies characterized by demyelination and necrosis of the corpus callosum, with subsequent atrophy due to damage in the lower parts of the brain (thalamus and hypothalamus). We present a 29-year-old male patient with a history of alcoholism who went to the Ophthalmology consultation due to decreased vision in his right eye for a year. Simple tomography and magnetic resonance imaging with intravenous contrast of the skull were performed, observing radiological findings of Wernicke -Korsakoff syndrome (affect memory and learning) with Marchiafava-Bignami stigmata (little-known disease). Mastery of the epistemology of these diseases is necessary, because, despite the poor prognosis in its acute form, cases with good evolution are reported, if an opportune diagnosis and treatment is made.

Manganese Associated with Non-Wilsonian Hepatolenticular Degeneration as a Rare Cause of Encephalopathy: Case Report

Aim: To describe the clinical picture, diagnosis, and treatment of a patient with encephalopathy as a manifestation of manganese-induced non-Wilsonian hepatolenticular degeneration (NWHD) in a high-complexity care center in a Latin American country. Case description: A 55-year-old male patient from the United States with a history of liver disease associated with alcohol consumption was admitted to the emergency department due to diarrhea, hematemesis, and psychomotor agitation. During his stay, his state of consciousness deteriorated, requiring orotracheal intubation. In his diagnostic study, cerebrospinal fluid tests were negative for infectious etiologies; the endoscopic examinations showed no marks of portal hypertension bleeding, while ammonium and tests for metabolic causes were normal. However, areas of hyperintensity in the basal ganglia were documented on brain MRI, with normal ceruloplasmin serum and urine copper levels, which ruled out Wilson's disease and determined the diagnosis of manganese-induced NWHD. Conclusion: NWHD is a rare cause of chronic encephalopathy with clinical manifestations of extrapyramidal symptoms secondary to basal ganglia dysfunction due to severe liver disease. Its diagnosis becomes a challenge, given that manganese deposits produce it, and no biomarkers can establish the level of exposure to this metal. Brain MRI is indispensable in reflecting these deposits in the basal ganglia.

Objetivo: Describir la presentación clínica, el diagnóstico y el tratamiento de un paciente con encefalopatía como manifestación de degeneración hepatolenticular no wilsoniana producida por manganeso, en un centro de alta complejidad de un país latinoamericano. Descripción del caso: Paciente masculino de 55 años, procedente de Estados Unidos, con antecedente de enfermedad hepática asociada con consumo de alcohol, quien ingresó al servicio de urgencias por un cuadro de diarrea, hematemesis y agitación psicomotora. Durante la estancia presentó deterioro en el estado de consciencia, por lo que requirió intubación orotraqueal. En su estudio diagnóstico, las pruebas de líquido cefalorraquídeo fueron negativas para etiologías infecciosas, en los estudios endoscópicos no tenía estigmas de sangrado portal hipertensivo y el amonio y los estudios para causas metabólicas fueron normales. Sin embargo, se documentaron áreas de hiperintensidad en los ganglios de la base en la resonancia magnética cerebral, con niveles de ceruloplasmina sérica y cobre urinario normales, lo que descartó enfermedad de Wilson y definió el diagnóstico de degeneración hepatolenticular no wilsoniana por depósitos de manganeso. Conclusión: La degeneración hepatolenticular no wilsoniana es una causa infrecuente de encefalopatía crónica con manifestaciones clínicas de extrapiramidalismo, secundaria a disfunción de los ganglios de la base por enfermedad hepática grave. Su diagnóstico se convierte en un reto, dado que se produce por depósitos de manganeso y no existen biomarcadores que puedan establecer el nivel de exposición a este metal. La resonancia magnética cerebral juega, por tanto, un papel indispensable al reflejar esos depósitos en los ganglios de la base.

Encefalopatías epilépticas y del desarrollo. ¿Que hay de nuevo? / Developmental and epileptic encephalopathy. What is new?

Resumen Este artículo no tiene como objetivo el presentar una descripción detallada de cada una de las encefalopatías epilépticas y del desarrollo, sino más bien discutir cam bios recientes en la terminología y criterios diagnósticos de ciertas encefalopatías, en base a una revisión actua lizada de los últimos 10 años. Se analizan cambios importantes en definiciones de síndromes específicos y nuevos tratamientos que han demostrado eficacia en el manejo de crisis convulsivas en estos pacientes. En conclusión: Las nuevas terapias de modulación genética, contribuirán no solo a reducir la carga de crisis epilépticas, sino también a mejorar el pronóstico cognitivo, y por lo tanto la calidad de vida.

Abstract It is not the intend of this article to present a de tailed description of each developmental and epileptic encephalopathy, but to discuss recent changes in the terminology and diagnostic criteria of specific disorders, based on an updated review of the last 10 years. Important changes in the definitions of specific syn dromes and new treatments that have shown efficacy in the management of seizures in these patients are analyzed. In conclusion: New gene modulation therapy will likely improve not only seizure frequency, but also cog nitive outcome and therefore quality of life.

Encefalopatia toxica secundaria a vigabatrina: Reporte de caso / Toxic encephalopathy secondary to vigabatrin: Case report

El síndrome de West es una encefalopatía epiléptica caracterizada por espasmos en flexión, hipsarritmia en el electroencefalograma y retraso en el neurodesarrollo. Reportamos el caso de una paciente de 11 meses con diagnóstico de Síndrome de West y encefalopatía tóxica secundaria al uso de vigabatrina

West syndrome is an epileptic encephalopathy characterized by flexing spasms, hypsarritmia in the electroencephalogram and delayed neurodevelopment. We report an 11-month-old patient with a diagnosis of West syndrome and toxic encephalopathy secondary to the use of vigabatrin

Clinical and molecular heterogeneity in CDLK5 disorders.

BACKGROUND: CDKL5 deficiency syndrome is caused by pathogenic variants in the CDKL5 gene, with a variable clinical spectrum ranging from patients with characteristics of autism spectrum disorder to early-onset epilepsy refractory to treatment. Initially, until the gene was discovered, it was considered an atypical form of Rett syndrome. This study aimed to describe the clinical and molecular heterogeneity in CDLK5 disorders among three female patients with CDKL5 pathogenic variants. CASE REPORTS: We reported three unrelated Mexican female patients evaluated for global developmental delay and epilepsy. All three cases were hemizygotes to a CDKL5 pathogenic variant. In one patient, we performed a 306 gene panel associated with epilepsy. In the other two cases, a human genomic microarray was performed. We describe their clinical features electroencephalogram and brain magnetic resonance evaluations. CONCLUSIONS: CDKL5 deficiency syndrome represents a challenge for clinicians since the clinical manifestations, electroencephalographic and neuroimaging studies can be non-specific. This syndrome should be suspected in the presence of global developmental delay, autistic behavioral phenotype and epilepsy, associated or not with dysmorphia. Given the similarity between various epileptic encephalopathies, multigene panels including sequencing and duplication/deletion analysis should be requested in which this gene and its possible differential diagnoses are considered, without forgetting the usefulness of genomic techniques in unclear cases.

INTRODUCCIÓN: El síndrome por deficiencia de CDKL5 es originado por variantes patogénicas en el gen CDKL5, con un espectro clínico variable que va desde pacientes con características del trastorno del espectro autista hasta epilepsia de inicio temprano y refractaria al tratamiento. Inicialmente fue considerado como una forma atípica de síndrome de Rett. CASOS CLÍNICOS: Presentamos tres pacientes no relacionadas, evaluadas por retraso global del desarrollo y epilepsia refractaria. Los tres casos eran hemicigotos a una variante patógena de CDKL5. En una paciente se realizó panel de 306 genes asociados con epilepsia; en las otras dos se realizó microarreglo genómico comparativo. Las características clínicas y los hallazgos en el electroencefalograma y la resonancia magnética cerebral se han descrito clásicamente en el espectro de manifestaciones de este síndrome. CONCLUSIONES: El síndrome por deficiencia de CDKL5 representa un reto para los médicos, ya que en muchos casos las manifestaciones clínicas y los estudios electroencefalográficos y de neuroimagen pueden ser inespecíficos. Debe sospecharse este síndrome ante la presencia de retraso global del desarrollo, fenotipo conductual autista y epilepsia, asociado o no con dismorfias. Dada la similitud entre diversas encefalopatías epilépticas, se deben solicitar paneles multigénicos que incluyan la secuenciación y el análisis de duplicación/deleción en los que se contemple este gen y sus posibles diagnósticos diferenciales, aunque sin olvidar la utilidad de las técnicas genómicas en casos poco claros.