RESUMO
Traumatic brain injury (TBI) is an important health and social problem. The mechanism of damage of this entity could be divided into two phases: (1) a primary acute injury because of the traumatic event; and (2) a secondary injury due to the hypotension and hypoxia generated by the previous lesion, which leads to ischemia and necrosis of neural cells. Cerebral edema is one of the most important prognosis markers observed in TBI. In the early stages of TBI, the cerebrospinal fluid compensates the cerebral edema. However, if edema increases, this mechanism fails, increasing intracranial pressure. To avoid this chain effect, several treatments are applied in the clinical practice, including elevation of the head of the bed, maintenance of normothermia, pain and sedation drugs, mechanical ventilation, neuromuscular blockade, controlled hyperventilation, and fluid therapy (FT). The goal of FT is to improve the circulatory system to avoid the lack of oxygen to organs. Therefore, rapid and early infusion of large volumes of crystalloids is performed in clinical practice to restore blood volume and blood pressure. Despite the relevance of FT in the early management of TBI, there are few clinical trials regarding which solution is better to apply. The aim of this study is to provide a narrative review about the role of the different types of FT used in the daily clinical practice on the management of TBI. To achieve this objective, a physiopathological approach to this entity will be also performed, summarizing why the different types of FT are used.
Assuntos
Edema Encefálico , Lesões Encefálicas Traumáticas , Humanos , Edema Encefálico/etiologia , Edema Encefálico/terapia , Edema Encefálico/patologia , Lesões Encefálicas Traumáticas/terapia , Lesões Encefálicas Traumáticas/complicações , Hidratação/efeitos adversos , Pressão SanguíneaRESUMO
INTRODUCTION: DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder caused by loss-of-function variants of WAC, located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disability, and behavioral problems. CASE REPORT: In this case report, we present a new deletion case and summarize the clinical data of previously reported individuals, comparing the similarities and differences between cases caused by point mutations versus those which are caused by deletions in the 10p region. CONCLUSION: Some differential features could facilitate the diagnostic suspicion guiding the optimal diagnostic tests that should be requested in each case scenario.
Assuntos
Deficiência Intelectual , Transtornos do Neurodesenvolvimento , Proteínas Adaptadoras de Transdução de Sinal/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Mutação Puntual , SíndromeRESUMO
This review aims to summarize the literature's main results about high flow nasal cannula therapy (HFNC) HFNC benefits in the Emergency Department (ED) in adults and pediatrics, including new Coronavirus Disease (COVID-19). HFNC has recently been established as the usual treatment in the ED to provide oxygen support. Its use has been generalized due to its advantages over traditional oxygen therapy devices, including decreased nasopharyngeal resistance, washing out of the nasopharyngeal dead space, generation of positive pressure, increasing alveolar recruitment, easy adaptation due to the humidification of the airways, increased fraction of inspired oxygen and improved mucociliary clearance. A wide range of pathologies has been studied to evaluate the potential benefits of HFNC; some examples are heart failure, pneumonia, chronic pulmonary obstructive disease, asthma, and bronchiolitis. The regular use of this oxygen treatment is not established yet due to the literature's controversial results. However, several authors suggest that it could be useful in several pathologies that generate acute respiratory failure. Consequently, the COVID-19 irruption has generated the question of HFNC as a safety and effective treatment. Our results suggested that HFNC seems to be a useful tool in the ED, especially in patients affected by acute hypoxemic respiratory failure, acute heart failure, pneumonia, bronchiolitis, asthma and acute respiratory distress syndrome in patients affected by COVID-19. Its benefits in hypercapnic respiratory failure are more discussed, being only observed benefits in patients with mild-moderate disease. These results are based in clinical as well as cost-effectiveness outcomes. Future studies with largest populations are required to confirm these results as well as establish a practical guideline to use this device.
Assuntos
Asma , COVID-19 , Insuficiência Cardíaca , Insuficiência Respiratória , Adulto , Humanos , Criança , Cânula , Serviço Hospitalar de Emergência , Insuficiência Respiratória/terapia , Asma/terapia , OxigênioRESUMO
Background: Malignant hyperthermia syndrome is a hereditary pharmacogenetic disorder of skeletal muscle characterized by hypermetabolic state related to the exposure of volatile anesthetic gases or depolarizing muscle relaxants. It is an infrequent entity that occurs in genetically predisposed individuals, with a very low incidence in pediatrics (1 in 10,000-15,000 anesthetic procedures). Case report: We report a case of malignant hyperthermia related to exposure to sevoflurane during adenoidectomy surgery in a 6-year-old female. The patient presented with tachycardia, hypercapnia, and hyperthermia, requiring two successive doses of dantrolene sodium administration, with an adequate response to the treatment. Conclusions: Malignant hyperthermia syndrome is a rare condition in pediatric patients that should be detected in early stages since it is essential to initiate the treatment as soon as possible.
Background: Introducción">El síndrome de hipertermia maligna es un trastorno farmacogenético del músculo esquelético de carácter hereditario, que se caracteriza por un estado hipermetabólico relacionado con la exposición a anestésicos inhalatorios o relajantes musculares despolarizantes. Se trata de una afección infrecuente en individuos genéticamente predispuestos, con una incidencia muy baja en pediatría (1 de cada 10,000-15,000 procedimientos anestésicos). Caso clínico: Se presenta un caso de hipertermia maligna relacionado con la exposición a sevoflurano durante una cirugía de adenoidectomía en un paciente de sexo femenino de 6 años de edad. La paciente presentó taquicardia, hipercapnia e hipertermia, que precisaron la administración de dos dosis sucesivas de dantroleno sódico. La evolución posterior fue buena. Conclusiones: El síndrome de hipertermia maligna es un cuadro poco frecuente en la edad pediátrica. Se debe sospechar de forma precoz, ya que es fundamental su detección temprana para iniciar el tratamiento.
Assuntos
Anestésicos Inalatórios , Hipertermia Maligna , Sevoflurano , Adenoidectomia , Anestésicos Inalatórios/efeitos adversos , Criança , Dantroleno/uso terapêutico , Feminino , Humanos , Hipertermia Maligna/tratamento farmacológico , Hipertermia Maligna/etiologia , Sevoflurano/efeitos adversosRESUMO
Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Asocia discapacidad intelectual severa y epilepsia de difícil control. Aunque su espectro clínico es variable, tiene por lo general un pronóstico infausto debido a la elevada morbimortalidad asociada. Se considera un trastorno esporádico causado por variantes patogénicas en heterocigosis de un gen ligado al cromosoma X, que causa mortalidad embrionaria en varones hemicigotos. Objetivo: este trabajo pretende llevar a cabo una revisión bibliográfica acerca de la literatura científica disponible del síndrome de Aicardi. De esta manera se hará una actualización sobre esta entidad en cuanto a definiciones, prevalencia e incidencia, etiología, espectro clínico y pronóstico de los pacientes afectos. Materiales y métodos: se lleva a cabo una búsqueda bibliográfica retrospectiva en las principales bases de datos científicas. Para ello, se utilizan las palabras clave "Aicardi", "agenesia del cuerpo calloso", "espasmos infantiles" y "encefalopatía epiléptica". Conclusiones: desde su descripción se ha ido ampliando el espectro de manifestaciones clínicas del síndrome. Actualmente no se conoce la existencia de un biomarcador que posibilite el diagnóstico, por lo que éste continúa siendo eminentemente clínico. Se debe tener un alto nivel de sospecha en espasmos infantiles de debut precoz en mujeres con alteraciones en neuroimagen.
Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder's definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. Materials and methods: we performed a retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". Conclusions: since it was first described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities.
RESUMO
No disponible
Assuntos
Humanos , Criança , Sons Respiratórios , Broncoscopia , Endoscopia , Cirurgia Vídeoassistida , Traqueomalácia/complicaçõesRESUMO
Resumen Introducción: El síndrome de hipertermia maligna es un trastorno farmacogenético del músculo esquelético de carácter hereditario, que se caracteriza por un estado hipermetabólico relacionado con la exposición a anestésicos inhalatorios o relajantes musculares despolarizantes. Se trata de una afección infrecuente en individuos genéticamente predispuestos, con una incidencia muy baja en pediatría (1 de cada 10,000-15,000 procedimientos anestésicos). Caso clínico: Se presenta un caso de hipertermia maligna relacionado con la exposición a sevoflurano durante una cirugía de adenoidectomía en un paciente de sexo femenino de 6 años de edad. La paciente presentó taquicardia, hipercapnia e hipertermia, que precisaron la administración de dos dosis sucesivas de dantroleno sódico. La evolución posterior fue buena. Conclusiones: El síndrome de hipertermia maligna es un cuadro poco frecuente en la edad pediátrica. Se debe sospechar de forma precoz, ya que es fundamental su detección temprana para iniciar el tratamiento.
Abstract Background: Malignant hyperthermia syndrome is a hereditary pharmacogenetic disorder of skeletal muscle characterized by hypermetabolic state related to the exposure of volatile anesthetic gases or depolarizing muscle relaxants. It is an infrequent entity that occurs in genetically predisposed individuals, with a very low incidence in pediatrics (1 in 10,000-15,000 anesthetic procedures). Case report: We report a case of malignant hyperthermia related to exposure to sevoflurane during adenoidectomy surgery in a 6-year-old female. The patient presented with tachycardia, hypercapnia, and hyperthermia, requiring two successive doses of dantrolene sodium administration, with an adequate response to the treatment. Conclusions: Malignant hyperthermia syndrome is a rare condition in pediatric patients that should be detected in early stages since it is essential to initiate the treatment as soon as possible.
Assuntos
Criança , Feminino , Humanos , Anestésicos Inalatórios , Sevoflurano , Hipertermia Maligna , Adenoidectomia , Anestésicos Inalatórios/efeitos adversos , Dantroleno/uso terapêutico , Sevoflurano/efeitos adversos , Hipertermia Maligna/etiologia , Hipertermia Maligna/tratamento farmacológicoRESUMO
Traumatic brain injury (TBI) is an important health and social problem. The mechanism of damage of this entity could be divided into two phases: (1) a primary acute injury because of the traumatic event; and (2) a secondary injury due to the hypotension and hypoxia generated by the previous lesion, which leads to ischemia and necrosis of neural cells. Cerebral edema is one of the most important prognosis markers observed in TBI. In the early stages of TBI, the cerebrospinal fluid compensates the cerebral edema. However, if edema increases, this mechanism fails, increasing intracranial pressure. To avoid this chain effect, several treatments are applied in the clinical practice, including elevation of the head of the bed, maintenance of normothermia, pain and sedation drugs, mechanical ventilation, neuromuscular blockade, controlled hyperventilation, and fluid therapy (FT). The goal of FT is to improve the circulatory system to avoid the lack of oxygen to organs. Therefore, rapid and early infusion of large volumes of crystalloids is performed in clinical practice to restore blood volume and blood pressure. Despite the relevance of FT in the early management of TBI, there are few clinical trials regarding which solution is better to apply. The aim of this study is to provide a narrative review about the role of the different types of FT used in the daily clinical practice on the management of TBI. To achieve this objective, a physiopathological approach to this entity will be also performed, summarizing why the different types of FT are used (AU)
El traumatismo craneoencefálico (TCE) es un importante problema sanitario y social. El mecanismo de daño de esta entidad se podría dividir en dos fases: 1) una lesión aguda primaria a causa del evento traumático, y 2) una lesión secundaria por la hipotensión e hipoxia generada por la lesión anterior, que conduce a la isquemia y necrosis de las células neurales. El edema cerebral es uno de los marcadores pronósticos más importantes observados en el TCE. En las primeras etapas de TCE, el líquido cefalorraquídeo compensa el edema cerebral. Sin embargo, si aumenta el edema, este mecanismo falla, aumentando la presión intracraneal. Para evitar este efecto en cadena, en la práctica clínica se aplican varios tratamientos, entre ellos la elevación de la cabecera de la cama, el mantenimiento de la normotermia, los fármacos para el dolor y la sedación, la ventilación mecánica, el bloqueo neuromuscular, la hiperventilación controlada y la fluidoterapia (FT). El objetivo de la FT es mejorar el sistema circulatorio para evitar la falta de oxígeno a los órganos. Por lo tanto, en la práctica clínica se realiza una infusión rápida y temprana de grandes volúmenes de cristaloides para restablecer el volumen sanguíneo y la presión arterial. A pesar de la relevancia de la FT en el manejo temprano del TCE, existen pocos ensayos clínicos sobre qué solución es mejor aplicar. El objetivo de este estudio es proporcionar una revisión narrativa sobre el papel de los diferentes tipos de FT utilizados en la práctica clínica diaria en el manejo del TCE. Para lograr este objetivo, también se realizará un abordaje fisiopatológico de esta entidad, resumiendo por qué se utilizan los diferentes tipos de FT (AU)
Assuntos
Humanos , Lesões Encefálicas Traumáticas/terapia , Edema/terapia , Hidratação , Lesões Encefálicas Traumáticas/complicações , Pressão Sanguínea , Edema/etiologiaRESUMO
INTRODUCCIÓN: uno de los primeros estímulos dolorosos al que es sometido un recién nacido sano es el cribado neonatal, mediante punción en el talón y extracción de muestra sanguínea. Tradicionalmente se ha tendido a menospreciar la sensibilidad al dolor neonatal y no se ha visto la necesidad de aplicar técnicas de analgesia para evitarlo. MATERIAL Y MÉTODOS: se diseñó un estudio experimental con una muestra de 106 recién nacidos en el Hospital San Pedro de Logroño (España) durante el año 2018. Se dividió la muestra en tres grupos en función de la analgesia recibida durante el procedimiento y se evaluó la respuesta al dolor mediante una escala validada. RESULTADOS: el dolor producido fue significativamente mayor en el grupo de no intervención frente a los grupos de suero glucosado o lactancia materna (p <0,001). Sin embargo, no se encontraron diferencias estadísticamente significativas entre ambos procedimientos analgésicos (p = 0,851). CONCLUSIONES: a la vista de los resultados, proponemos la implementación de estas intervenciones en otros procedimientos dolorosos. Los profesionales sanitarios han de tomar conciencia de la percepción del dolor en los procedimientos llevados a cabo tanto en el ámbito hospitalario como en Atención Primaria
INTRODUCTION: neonatal screening is one of the first painful stimuli in newborns. It consists in the extraction of a capillary blood sample by puncturing the heel. Neonatal pain is often underestimated and also the need to apply analgesia in these cases has not always been taken into account. PATIENTS AND METHODS: an experimental study was conducted on a sample of 106 newborns in the San Pedro Hospital in Logroño during 2018. Depending on the analgesia received during the heal lance, the population sample was divided into three groups. Pain response was evaluated using a validated scale. RESULTS: pain was significantly higher in the non-intervention group compared to the groups treated with glucose or breastfeeding (p <0.001). However, no statistically significant differences were found between both the analgesic procedures (p = 0.851). CONCLUSIONS: we propose the implementation of these interventions in other painful procedures. Health professionals must be aware of the perception of pain in the procedures carried out in Hospitals or Primary Care Centers