Fiebre y exantema tras picadura de garrapata / Fever and rash after tick bite

Las garrapatas duras se han convertido en los principales vectores de enfermedades infecciosas en el mundo industrializado, pudiendo transmitir a través de su picadura bacterias, virus y protozoos, además de causar procesos alérgicos y tóxicos. Dentro de las enfermedades transmitidas por garrapatas, las más frecuentes en nuestro medio son: la fiebre botonosa mediterránea, la enfermedad de Lyme y la enfermedad de Debonel/Tibola. La fiebre botonosa mediterránea es la rickettsiosis más frecuente en Europa. Se ha observado un aumento de los casos en los últimos años, en probable relación con el aumento de temperatura global. (AU)

Hard ticks have become the main vectors of infectious diseases in the industrialized world, being able to transmit bacteria, viruses and protozoa through their bite, as well as causing allergic and toxic processes. Among the tick-borne disease the most frequent in our setting are boutonneuse fever, Lyme disease and Debonel/Tibola disease. Boutonneuse fever is the most common rickettsiosis in Europe. An increase in cases has been observed in recent years, probably related to the increase in global temperature. (AU)

Síndrome de Aicardi: revisión bibliográfica

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.

Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.

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.

Analgesia no farmacológica durante la realización del cribado metabólico. Aplicación en otros procedimientos dolorosos / Non-pharmacological analgesia during the heel lance procedure in newborns. Application in other painful procedures

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

Posttraumatic Delayed Jugular Foramen Syndrome in a Toddler.

BACKGROUND: Multiple lower cranial nerve palsies have been attributed to occipital condyle fractures in older children and adults, but no clinical details of other possible mechanisms have been described in infants. CASE REPORT: A 33-month-old boy suffered blunt head trauma. A bilateral skull base fracture was diagnosed, with favorable outcome during the first days after trauma. On the sixth day, the patient began to refuse drinking and developed hoarseness. Physical examination and additional investigations revealed paralysis of left VII, IX, X, and XI cranial nerves. A follow-up computed tomography (CT) scan disclosed a left petrous bone fracture involving the lateral margin of the jugular foramen, and a cranial magnetic resonance imaging (MRI) study showed a left cerebellar tonsil contusion. He improved after methylprednisolone was started. Three months later, he was asymptomatic, although mild weakness and atrophy of the left sternocleidomastoid and trapezius muscles remained 1 year later. DISCUSSION: A posttraumatic "jugular foramen syndrome" is rare in children, but it has been reported shortly after occipital condyle fracture, affecting mainly IX, X, and XI cranial nerves. In this toddler, delayed symptoms appeared with unilateral involvement. While an occipital fracture was ruled out, neuroimaging findings suggest the hypothesis of a focal contusion as a consequence of a coup-contrecoup injury. CONCLUSION: This exceptional case highlights the importance of gathering physical examination, anatomical correlation, and neuroimaging to yield a diagnosis.