Occipito-Cervico-Dorsal Flap for Neck Reconstruction After Postburn Contractures: A Case Report and Literature Review.

Because the head and neck are one of the most frequent locations of burns, it is of paramount importance that plastic surgeons and plastic surgical nurses understand the most effective surgical methods for treating neck contractures and the reconstructive technique required for each case. We introduce the case of a 42-year-old woman who presented with a severe postburn neck contracture that was reconstructed with a pedicled occipito-cervico-dorsal flap. We closed the donor-site wound primarily and completely covered the defect with good results. In addition to conventional skin grafts, dermal matrices, and microsurgical techniques, using an occipito-cervico-dorsal flap should be considered for reconstructing postburn neck contractures as it offers good aesthetic and functional outcomes, provides enough tissue and pliable skin, and results in minimal donor-site morbidity.

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with Pompe in Spain. Here, we report the data of the 122 patients registered including nine IOPD and 113 LOPD patients. There was a high variability in how the diagnosis was obtained and how the follow-up was performed among different centres. Seven IOPD patients were still alive being all treated with enzymatic replacement therapy (ERT) at last visit. Ninety four of the 113 LOPD patients had muscle weakness of which 81 were receiving ERT. We observed a progressive decline in the results of muscle function tests during follow-up. Overall, the Spanish Pompe Registry is a valuable resource for understanding the demographics, patient's journey and clinical characteristics of patients in Spain. Our data supports the development of agreed guidelines to ensure that the care provided to the patients is standardized across the country.

Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.

Pathogenic variants in the AP4B1 gene lead to a rare form of hereditary spastic paraplegia (HSP) known as SPG47. We report on a patient with a clinical suspicion of complicated HSP of the lower limbs with intellectual disability, as well as a novel homozygous noncanonical splice site variant in the AP4B1 gene, in which the effect on splicing was validated by RNA analysis. We sequenced 152 genes associated with HSP using Next-Generation Sequencing (NGS). We isolated total RNA from peripheral blood and generated cDNA using reverse transcription-polymerase chain reaction (RT-PCR). A region of AP4B1 mRNA was amplified by PCR and the fragments obtained were purified from the agarose gel and sequenced. We found a homozygous variant of uncertain significance in the AP4B1 gene NM_006594.4: c.1511-6C>G in the proband. Two different AP4B1 mRNA fragments were obtained in the patient and his carrier parents. The shorter fragment was the predominant fragment in the patient and revealed a deletion with skipping of the AP4B1 exon 10. The patient's longer fragment corresponded to an insertion of the last five nucleotides of AP4B1 intron 9. We confirmed that this variant affects the normal splicing of RNA, sustaining the molecular diagnosis of SPG47 in the patient.

The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia.

BACKGROUND: The impact of respiratory virus infection in patients diagnosed with ataxia-telangiectasia (A-T) has not been well studied. METHODS: A prospective case control study was performed at a National Reference Unit for Primary Immunodeficiency in Spain (from November 2018 to July 2019), including patients younger than 20 years. Symptom questionnaires and nasopharyngeal swabs from multiple respiratory viruses' polymerase chain reaction were collected monthly, and between visits in case of symptoms. RESULTS: Twenty-two individuals were included (11 patients; 11 controls); 164 samples were obtained (81 patients; 84 controls). Patients presented respiratory symptoms more frequently compared with controls (26.5% vs. 3.5%; p < 0.01). Viral detection was observed in 23 (27.3%) episodes in patients and in 15 (17.8%) episodes in controls (p = 0.1). Rhinovirus was the most frequent virus in patients and controls (60% and 53.3%, respectively). Episodes with positive viral detection had associated symptoms in 54% of patients and 18% of controls (p = 0.07). However, patients with A-T presented a similar rate of symptoms during episodes with positive and negative viral detection (26% vs. 27%). The median points given for each questionnaire during symptomatic episodes with negative viral detection were 13/23 points, and during symptomatic positive detection, 7.5/23 points (p = 0.1). In the control group, all but two were asymptomatic during positive viral episodes (score: 2/23 and 3/23 points). Symptomatic episodes, with either positive or negative viral detection, were associated with lower IgA and higher IgM titers and higher CD8+ counts (p < 0.05), particularly when these episodes were moderate/severe. CONCLUSIONS: Patients with A-T more frequently present symptomatic viral infections than controls, especially those with lower IgA and higher IgM titers and higher CD8+ counts.

COVID-19 in children with neuromuscular disorders.

OBJECTIVE: Children with neuromuscular disorders have been assumed to be a particularly vulnerable population since the beginning of COVID-19. Although this is a plausible hypothesis, there is no evidence that complications or mortality rates in neuromuscular patients are higher than in the general population. The aim of this study is to describe the clinical characteristics and outcome of COVID-19 in children with neuromuscular disorders. METHODS: A registry of children with neuromuscular conditions and laboratory-confirmed-SARS-CoV-2 infection was set up by the Neuromuscular Working Group of the Spanish Pediatric Neurology Society (SENEP). Data to be collected were focused on the characteristics and baseline status of the neuromuscular condition and the course of COVID-19. RESULTS: Severe complications were not observed in our series of 29 children with neuromuscular disorders infected by SARS-CoV-2. Eighty-nine percent of patients were clinically categorized as asymptomatic or mild cases and 10% as moderate cases. Patients with a relatively more severe course of COVID-19 had SMA type 1 and were between 1 and 3 years. CONCLUSIONS: The course of COVID-19 in children with neuromuscular disorders may not be as severe as expected. The protective role of young age seems to outweigh the risk factors that are common in neuromuscular patients, such as a decreased respiratory capacity or a weak cough. Further studies are needed to know if this finding can be generalized to children with other chronic diseases.

Comparación del indicador Quick SOFA respecto a los niveles asignados por el Modelo Andorrano de Triaje en la clasificación de los pacientes que acuden a un servicio de urgencias de un hospital urbano de tercer nivel / Comparison of the Quick Sepsis-related Organ Dysfunction score and severity levels assigned with the Andorran Triage Model in an urban tertiary care hospital emergency department

Objetivo. Comparar la utilidad pronóstica del "quick SOFA" (qSOFA) con respecto al nivel de triaje asignado por el Modelo Andorrano de Triaje (MAT) en un servicio de urgencias hospitalario (SUH). Método. Durante seis meses se incluyó a los pacientes que en la primera hora del turno de mañana consultaron en urgencias de un hospital terciario y fueron clasificados como nivel 2 o nivel 3 según el MAT. Se realizó seguimiento prospectivo del episodio de urgencias y del episodio de ingreso de aquellos pacientes que lo requirieron. Se analizó la mortalidad a 30 días mediante curvas de Kaplan-Meier y análisis multivariante mediante regresión de Cox. Resultados. Se incluyeron 322 pacientes (edad media de 61 años). El valor del qSOFA a la llegada a urgencias fue de 0-1 puntos en 294 (91%) y de 2-3 puntos en 28 pacientes (9%). Un total de 14 pacientes fallecieron como consecuencia del episodio que motivó su asistencia en urgencias, y la probabilidad de supervivencia a los 30 días fue del 97%. Los factores relacionados con mayor mortalidad fueron el nivel 2 de triaje, el valor de qSOFA 2-3 puntos, la edad igual o mayor de 70 años y un índice Charlson abreviado de comorbilidad >= 4 puntos. En el análisis de regresión de Cox, un valor de qSOFA 2-3 fue el único factor asociado de forma independiente a mayor mortalidad. Conclusiones. El qSOFA es un indicador útil en el triaje de los pacientes que acuden a un SUH, puesto que identifica de forma independiente a los que tienen un peor pronóstico

Objective. To compare the usefulness of the Quick Sepsis-related Organ Dysfunction (qSOFA) score and the Andorran Triage Model in a hospital emergency department. Methods. Patients who came to emergency department of a tertiary-eme hospital during the first hour of the morning shift over a 6-month period were included in the study if severity was assessed as level 2 or 3 according to the Andorran model. The qSOFA score was also assessed on arrival. The patients were then followed prospectively in the department and if they were admitted, follow-up continued on the ward. Thirty-day mortality was analyzed with Kaplan-Meier curves and the Cox multiple-variable regression model. Results. A total of 322 patients with a mean age of 61 years were included. The qSOFA scores on arrival in the department were 0-1 points in 294 patients (91%) and 2-3 points in 28 (9%). Fourteen patients died as a consequence of the emergency. The 30-day probability of survival was calculated to be 97%. Factors related to mortality were level-2 triage classification, a qSOFA score of 2-3 points, age 70 years or older, and an abbreviated Charlson index of 4 points or higher. A qSOFA score of 2-3 points was the only independent variable associated with mortality in the Cox model. Conclusion. The qSOFA score is a useful triage indicator in patients who come to a hospital emergency department. It identifies patients with a worse prognosis

Uso de antimicrobianos en urgencias: ¿hay margen de mejora? / Antibiotic use in the emergency department: Is there room for improvement?

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Comparison of the Quick Sepsis-related Organ Dysfunction score and severity levels assigned with the Andorran Triage Model in an urban tertiary care hospital emergency department. / Comparación del indicador Quick SOFA respecto a los niveles asignados por el Modelo Andorrano de Triaje en la clasificación de los pacientes que acuden a un servicio de urgencias de un hospital urbano de tercer nivel.

OBJECTIVES: To compare the usefulness of the Quick Sepsis-related Organ Dysfunction (qSOFA) score and the Andorran Triage Model in a hospital emergency department. MATERIAL AND METHODS: Patients who came to emergency department of a tertiary-eme hospital during the first hour of the morning shift over a 6-month period were included in the study if severity was assessed as level 2 or 3 according to the Andorran model. The qSOFA score was also assessed on arrival. The patients were then followed prospectively in the department and if they were admitted, follow-up continued on the ward. Thirty-day mortality was analyzed with Kaplan-Meier curves and the Cox multiple-variable regression model. RESULTS: A total of 322 patients with a mean age of 61 years were included. The qSOFA scores on arrival in the department were 0-1 points in 294 patients (91%) and 2-3 points in 28 (9%). Fourteen patients died as a consequence of the emergency. The 30-day probability of survival was calculated to be 97%. Factors related to mortality were level-2 triage classification, a qSOFA score of 2-3 points, age 70 years or older, and an abbreviated Charlson index of 4 points or higher. A qSOFA score of 2-3 points was the only independent variable associated with mortality in the Cox model. CONCLUSION: The qSOFA score is a useful triage indicator in patients who come to a hospital emergency department. It identifies patients with a worse prognosis.

OBJETIVO: Comparar la utilidad pronóstica del 'quick SOFA' (qSOFA) con respecto al nivel de triaje asignado por el Modelo Andorrano de Triaje (MAT) en un servicio de urgencias hospitalario (SUH). METODO: Durante seis meses se incluyó a los pacientes que en la primera hora del turno de mañana consultaron en urgencias de un hospital terciario y fueron clasificados como nivel 2 o nivel 3 según el MAT. Se realizó seguimiento prospectivo del episodio de urgencias y del episodio de ingreso de aquellos pacientes que lo requirieron. Se analizó la mortalidad a 30 días mediante curvas de Kaplan-Meier y análisis multivariante mediante regresión de Cox. RESULTADOS: Se incluyeron 322 pacientes (edad media de 61 años). El valor del qSOFA a la llegada a urgencias fue de 0-1 puntos en 294 (91%) y de 2-3 puntos en 28 pacientes (9%). Un total de 14 pacientes fallecieron como consecuencia del episodio que motivó su asistencia en urgencias, y la probabilidad de supervivencia a los 30 días fue del 97%. Los factores relacionados con mayor mortalidad fueron el nivel 2 de triaje, el valor de qSOFA 2-3 puntos, la edad igual o mayor de 70 años y un índice Charlson abreviado de comorbilidad 4 puntos. En el análisis de regresión de Cox, un valor de qSOFA 2-3 fue el único factor asociado de forma independiente a mayor mortalidad. CONCLUSIONES: El qSOFA es un indicador útil en el triaje de los pacientes que acuden a un SUH, puesto que identifica de forma independiente a los que tienen un peor pronóstico.

Posibilidades de tratamiento en la atrofia espinal infantil / Possible treatments for infantile spinal atrophy

Se revisan los nuevos tratamientos de la atrofia muscular espinal (AME) producida por deleción del gen SMN1. Se describen las diferentes posibilidades de incrementar la proteína SMN, de su actividad y persistencia en el organismo. Fármacos neuroprotectores, como olesoxime y riluzol, y fármacos que actúan epigenéticamente, como inhibidores de histona deacetilasa, han mostrado cierto efecto positivo en fases preclínicas pero no han conseguido eficacia en los ensayos clínicos. Podrían proporcionar en un futuro un beneficio añadidos a otros fármacos modificadores genéticos. Los mayores cambios en estudios de modelos del ratón SMA y en fases clínicas se han encontrado con oligonucleótidos antisentido que modifican el splicing del gen SMN2, y se espera que mejoren en el futuro próximo. Recientemente se ha aprobado el nusinersen, un metoxietilo fosforotioato-oligonucleótido antisentido, para uso en pacientes con AME de tipo I una vez demostrada su eficacia en pacientes en el ensayo en fase 3. Se revisan los resultados de este fármaco. Están en marcha modificaciones de oligonucleótidos antisentido que amplíen la liberación en el sistema nervioso y en tejidos periféricos. Hay datos que sugieren eficacia de la terapia génica introduciendo el gen SMN1 mediante virus adenoasociados, actualmente en fase clínica 1. Una constante en estos nuevos tratamientos es que los resultados se optimizan en las etapas precoces de la enfermedad y, mejor aún, en estadio presintomático. Se subraya la importancia de los cuidados generales óptimos, especialmente nutricionales y respiratorios, para conseguir los mejores resultados con las nuevas terapias (AU)

The new treatments of spinal muscular atrophy (SMA) due by SMN1 gene deletions are reviewed. There are several ways to increase the protein SMN, its activity and persistence in the tissues. Neuroprotective drugs as olesoxime or riluzole, and drugs acting by epigenetic mechanisms, as histone deacetylase inhibitors, have shown positive effects in preclinical studies but no clear efficacy in clinical trials. They might give in the future added benefits when used associated to other genetic modifying drugs. The best improvements in murine models of SMA and in clinical trials have been reached with antisense oligonucleotides, drugs that modify the splicing of SMN2, and they are expected to get better in the near future. Nusinersen, a methoxi-ethyl phosphotioate antisense oligonucleotide has recently approved for treatment of patients with SMA type 1 after having proved its efficacy in clinical trial phase 3. The results of nusinersen are reviewed. New modifications of antisense oligonucleotides with better access to brain, spinal cord and peripheral tissues are on the way. There are data of the efficacy of the genetic therapy with SMN1 gene through adenoassociated virus, now in phase 1 trial. A constant feature of these new treatments is that the earlier the treatment, the best are the results, and they are even better in presymptomatic stage. The general standards of care, particularly nutrition and respiratory management are needed in order to reach optimal results with the new therapies (AU)

Infantile-onset Pompe disease with neonatal debut: A case report and literature review.

RATIONALE: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. PATIENT CONCERNS: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening. The patient was asymptomatic, with a general physical examination revealing only a murmur. The clinical presentation was dominated by the neonatal detection of hypertrophic cardiomyopathy, without hypotonia or macroglossia. DIAGNOSES: Pompe disease was confirmed in the first week of life by GAA activity in dried blood spots, and a GAA genetic study showed the homozygous mutation p.Arg854X. INTERVENTIONS: Parents initially refused replacement therapy. OUTCOMES: The patient experienced recurrent episodes of ventricular fibrillation during central line placement and could not be resuscitated. LESSONS: Although Pompe disease is rare, and universal screening has not been established, neonatologists should be alerted to the diagnosis of Pompe in the presence of hypertrophic cardiomyopathy. Diagnosis is achieved in a few days with the aid of dried blood spots.

Respuesta de la autora: Acerca de las oportunidades de mejora en el manejo de la sepsis grave y el shock séptico en urgencias / Author’s response: Management of severe sepsis and septic shock in a tertiary care urban hospital emergency department: opportunities for improvement

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Cost-minimization analysis in the treatment of spasticity in children with cerebral palsy with botulinum toxin type A: an observational, longitudinal, retrospective study / Análisis de minimización de costes del tratamiento de la espasticidad en niños con parálisis cerebral con toxina botulínica tipo A: un estudio observacional, longitudinal, retrospectivo

Objective: Cost-minimization analysis of onabotulinumtoxinA and abobotulinumtoxinA, taking into account the real dose administered to children with spasticity associated with dynamic equinus foot deformity due to cerebral palsy. Method: A single centre, observational, longitudinal, and retrospective study which included spastic paediatric patients aged 2-to-18-years and treated with onabotulinumtoxinA or abobotulinumtoxinA from December 1995 to October 2012, in the Paediatric Neurology Unit of a first-level Spanish hospital. A longitudinal analysis of spasticity severity was made to confirm the similar efficacy of both treatments. Cost minimization was analyzed using the dose administered and the direct costs (pharmacological and medical visits costs) from the perspective of the National Health System (in euros from 2016). Results: We analyzed 895 patients with paediatric spasticity: 543 were treated only with onabotulinumtoxinA, 292 only with abobotulinumtoxinA, and 60 with both treatments. The mean doses administered were 5.44 U/kg (SD = 2.17) for onabotulinumtoxinA, and 14.73 U/kg (5.26) for abobotulinumtoxinA. The total annual direct cost (pharmacological and medical visits) was €839.56 for onabotulinumtoxinA and €631.23 for abobotulinumtoxinA, which represents a difference of Euro 208.34 per year in favour of treatment with abobotulinumtoxinA. Conclusions: It has been demonstrated that in real clinical practice, the cost per patient and year for treatment of paediatric spasticity was lower when abobotulinumtoxinA was used

Objetivo: Estudio de minimización de costes de onabotulinumtoxinA y de abobotulinumtoxinA, teniendo en cuenta la dosis real administrada, en niños con espasticidad asociada con la deformidad dinámica del pie equino debida a parálisis cerebral. Método: Estudio unicéntrico, observacional, longitudinal y retrospectivo que incluyó pacientes pediátricos espásticos entre 2 y 18 años tratados con onabotulinumtoxinA o abobotulinumtoxinA, entre diciembre del 1995 y octubre del 2012, en el Servicio de Neurología Pediátrica de un hospital español de primer nivel. Se realizó un análisis longitudinal de la gravedad de la espasticidad para confirmar la similar efectividad de ambos tratamientos y proceder al análisis de minimización de costes que contempló las dosis infiltradas y los costes directos (costes farmacológicos y de visitas) desde la perspectiva del Sistema Nacional de Salud (euros 2016). Resultados: Se analizaron 895 pacientes con espasticidad infantil, 543 fueron tratados únicamente con onabotulinumtoxinA, 292 con abobotulinumtoxinA y 60 con ambos tratamientos. Las dosis medias infiltradas obtenidas fueron de 5,44 U/kg (DE = 2,17) para las infiltraciones con onabotulinumtoxinA y de 14,73 U/kg (5,26) para las infiltraciones con abobotulinumto xinA. El coste directo anual total (farmacológico y visitas) fue de 839,56 € para onabotulinumtoxinA y de 631,23 € para abobotulinumtoxinA, lo que supone una diferencia de 208,34 Euros al año a favor del tratamiento con abobotulinumtoxinA. Conclusiones: Se ha mostrado que en práctica clínica real el coste por paciente y año del tratamiento de la espasticidad infantil resulta más económico con la utilización de abobotulinumtoxina

Cost-minimization analysis in the treatment of spasticity in children with cerebral palsy with botulinum toxin type A: an observational, longitudinal, retrospective study.

OBJECTIVE: Cost-minimization analysis of onabotulinumtoxinA and abobotulinumtoxinA, taking into account the real dose administered to children with spasticity associated with dynamic equinus foot deformity due to cerebral palsy. METHOD: A single centre, observational, longitudinal, and retrospective study which included spastic paediatric patients aged 2-to-18-years and treated with onabotulinumtoxinA or abobotulinumtoxinA from December 1995 to October 2012, in the Paediatric Neurology Unit of a first-level Spanish hospital. A longitudinal analysis of spasticity severity was made to confirm the similar efficacy of both treatments. Cost minimization was analyzed using the dose administered and the direct costs (pharmacological and medical visits costs) from the perspective of the National Health System (in euros from 2016). RESULTS: We analyzed 895 patients with paediatric spasticity: 543 were treated only with onabotulinumtoxinA, 292 only with abobotulinumtoxinA, and 60 with both treatments. The mean doses administered were 5.44 U/kg (SD = 2.17) for onabotulinumtoxinA, and 14.73 U/kg (5.26) for abobotulinumto xinA. The total annual direct cost (pharmacological and medical visits) was € 839.56 for onabotulinumtoxinA and € 631.23 for abobotulinumtoxinA, which represents a difference of € 208.34 per year in favour of treatment with abobotulinumtoxinA. CONCLUSIONS: It has been demonstrated that in real clinical practice, the cost per patient and year for treatment of paediatric spasticity was lower when abobotulinumtoxinA was used.

Objetivo: Estudio de minimización de costes de onabotulinumtoxinA y de abobotulinumtoxinA, teniendo en cuenta la dosis real administrada, en ninos con espasticidad asociada con la deformidad dinámica del pie equino debida a parálisis cerebral. Método: Estudio unicéntrico, observacional, longitudinal y retrospectivo que incluyó pacientes pediátricos espásticos entre 2 y 18 anos tratados con onabotulinumtoxinA o abobotulinumtoxinA, entre diciembre del 1995 y octubre del 2012, en el Servicio de Neurología Pediátrica de un hospital espanol de primer nivel. Se realizó un análisis longitudinal de la gravedad de la espasticidad para confirmar la similar efectividad de ambos tratamientos y proceder al análisis de minimización de costes que contempló las dosis infiltradas y los costes directos (costes farmacológicos y de visitas) desde la perspectiva del Sistema Nacional de Salud (euros 2016). Resultados: Se analizaron 895 pacientes con espasticidad infantil, 543 fueron tratados únicamente con onabotulinumtoxinA, 292 con abobotulinumtoxinA y 60 con ambos tratamientos. Las dosis medias infiltradas obtenidas fueron de 5,44 U/kg (DE = 2,17) para las infiltraciones con onabotulinumtoxinA y de 14,73 U/kg (5,26) para las infiltraciones con abobotulinumto xinA. El coste directo anual total (farmacológico y visitas) fue de 839,56 € para onabotulinumtoxinA y de 631,23 € para abobotulinumtoxinA, lo que supone una diferencia de 208,34 € al ano a favor del tratamiento con abobotulinumtoxinA. Conclusiones: Se ha mostrado que en práctica clínica real el coste por paciente y ano del tratamiento de la espasticidad infantil resulta más económico con la utilización de abobotulinumtoxinA.

Manejo de la sepsis grave y el shock séptico en un servicio de urgencias de un hospital urbano de tercer nivel. Oportunidades de mejora / Management of severe sepsis and septic shock in a tertiary care urban hospital emergency department: opportunities for improvement

Objetivos: Describir las características del manejo inicial de la sepsis grave y el shock séptico (SS) en un servicio de urgencias hospitalario (SUH) en el que no existe una identificación específica en el triaje. Determinar cuáles serían las oportunidades de mejora. Método: Diseño de cohortes prospectivo de marzo de 2014 a marzo de 2015. Se incluyó el primer paciente del día de estudio que fue atendido en el SUH por un cuadro compatible con SS. Se registró el nivel de triaje asignado (mediante el Modelo Andorrano de Triaje -MAT-) y las variables clínico epidemiológicas primarias. Se realizó seguimiento del paciente durante el ingreso hasta el alta. Resultados: Se incluyeron 50 pacientes con SS (35 varones, edad media 65 años), 35 fueron clasificados como nivel 1-2 del MAT y 15 como nivel 3. Los pacientes clasificados inicialmente como nivel 1-2, en comparación con los de nivel 3, presentaban una frecuencia cardiaca de 110 frente a 90 latidos por minuto (p = 0,003) y una frecuencia respiratoria de 27 frente a 18 respiraciones por minuto (p = 0,001). La diferencia entre la hora de llegada y la hora de entrada al box (nivel 1-2: 18 minutos; nivel 3: 117 minutos, p = 0,002), así como entre la hora de llegada y la primera dosis de antibiótico (nivel 1-2: 85 minutos, nivel 3: 231 minutos, p = 0,001 fue significativamente menor en los pacientes clasificados como nivel 1-2). Conclusiones: La atención médica a los pacientes con SS en un SUH sin identificación específica es susceptible de mejora en cuanto al diagnóstico precoz y a la adhesión a las guías de manejo terapéutico inicial (AU)

Objectives: To describe the characteristics of early management of severe sepsis and septic shock in a hospital emergency department that does not have a specific triage category to identify patients in these states. To determine opportunities for improvement. Methods: Prospective cohort study from March 2014 to March 2015. On each day during the study period, we included the first patient with signs compatible with septic shock. We recorded the severity level assigned according to the Andorran Triage Model and the main clinical and epidemiological variables. Patients were followed until hospital discharge. Results: Fifty patients (35 men) with septic shock (mean age 65 years) were included. Thirty-five were at triage level 1 or 2 and 15 were at level 3. Patients initially classified as level 1-2 had significantly higher heart rates than level 3 patients (mean 110 vs 90 bpm, respectively; P=.003) and respiratory rates (mean 27 vs 18 breaths per minute; P=.001). Patients classified as level 1-2 also had significantly shorter care times than level 3 patients: time from arrival to examination room entry, 18 vs 117 minutes, respectively (P=.002); time from arrival to the first antibiotic dose (85 vs 231 minutes (P=.001). Conclusions: Medical care for patients with septic shock in this emergency department needs to improve in terms of earlier diagnosis and better compliance with guidelines for initial therapeutic management (AU)

Disección de arterias vertebrales como causa de evento cerebrovascular agudo en niños / Dissection of vertebral arteries as the cause of acute cerebrovascular events in children

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Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the genetics of which are poorly characterized. We designed a panel comprising 56 genes associated with Charcot-Marie-Tooth disease/hereditary motor neuropathy. We validated this diagnostic tool by first testing 11 patients with pathological mutations. A cohort of 33 affected subjects was selected for this study. The DNAJB2 c.352+1G>A mutation was detected in two cases; novel changes and/or variants with low frequency (<1%) were found in 12 cases. There were no candidate variants in 18 cases, and amplification failed for one sample. The DNAJB2 c.352+1G>A mutation was also detected in three additional families. On haplotype analysis, all of the patients from these five families shared the same haplotype; therefore, the DNAJB2 c.352+1G>A mutation may be a founder event. Our gene panel allowed us to perform a very rapid and cost-effective screening of genes involved in Charcot-Marie-Tooth disease/hereditary motor neuropathy. Our diagnostic strategy was robust in terms of both coverage and read depth for all of the genes and patient samples. These findings demonstrate the difficulty in achieving a definitive molecular diagnosis because of the complexity of interpreting new variants and the genetic heterogeneity that is associated with these neuropathies.

[Management of severe sepsis and septic shock in a tertiary care urban hospital emergency department: opportunities for improvement]. / Manejo de la sepsis grave y el shock séptico en un servicio de urgencias de un hospital urbano de tercer nivel. Oportunidades de mejora.

OBJECTIVES: To describe the characteristics of early management of severe sepsis and septic shock in a hospital emergency department that does not have a specific triage category to identify patients in these states. To determine opportunities for improvement. MATERIAL AND METHODS: Prospective cohort study from March 2014 to March 2015. On each day during the study period, we included the first patient with signs compatible with septic shock. We recorded the severity level assigned according to the Andorran Triage Model and the main clinical and epidemiological variables. Patients were followed until hospital discharge. RESULTS: Fifty patients (35 men) with septic shock (mean age 65 years) were included. Thirty-five were at triage level 1 or 2 and 15 were at level 3. Patients initially classified as level 1-2 had significantly higher heart rates than level 3 patients (mean 110 vs 90 bpm, respectively; P=.003) and respiratory rates (mean 27 vs 18 breaths per minute; P=.001). Patients classified as level 1-2 also had significantly shorter care times than level 3 patients: time from arrival to examination room entry, 18 vs 117 minutes, respectively (P=.002); time from arrival to the first antibiotic dose (85 vs 231 minutes (P=.001). CONCLUSION: Medical care for patients with septic shock in this emergency department needs to improve in terms of earlier diagnosis and better compliance with guidelines for initial therapeutic management.

OBJETIVO: Describir las características del manejo inicial de la sepsis grave y el shock séptico (SS) en un servicio de urgencias hospitalario (SUH) en el que no existe una identificación específica en el triaje. Determinar cuáles serían las oportunidades de mejora. METODO: Diseño de cohortes prospectivo de marzo de 2014 a marzo de 2015. Se incluyó el primer paciente del día de estudio que fue atendido en el SUH por un cuadro compatible con SS. Se registró el nivel de triaje asignado (mediante el Modelo Andorrano de Triaje ­MAT­) y las variables clínico epidemiológicas primarias. Se realizó seguimiento del paciente durante el ingreso hasta el alta. RESULTADOS: Se incluyeron 50 pacientes con SS (35 varones, edad media 65 años), 35 fueron clasificados como nivel 1-2 del MAT y 15 como nivel 3. Los pacientes clasificados inicialmente como nivel 1-2, en comparación con los de nivel 3, presentaban una frecuencia cardiaca de 110 frente a 90 latidos por minuto (p = 0,003) y una frecuencia respiratoria de 27 frente a 18 respiraciones por minuto (p = 0,001). La diferencia entre la hora de llegada y la hora de entrada al box (nivel 1-2: 18 minutos; nivel 3: 117 minutos, p = 0,002), así como entre la hora de llegada y la primera dosis de antibiótico (nivel 1-2: 85 minutos, nivel 3: 231 minutos, p = 0,001 fue significativamente menor en los pacientes clasificados como nivel 1-2). CONCLUSIONES: La atención médica a los pacientes con SS en un SUH sin identificación específica es susceptible de mejora en cuanto al diagnóstico precoz y a la adhesión a las guías de manejo terapéutico inicial.