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En la actualidad, en el contexto epidemiológico de pandemia por SARS-COV2, sin poder determinar cuánto se prolongará en el tiempo, existe una necesidad de reorganizar la asistencia de los pacientes ambulatorios intentando evitar las visitas presenciales, reduciendo el número de consultas a las mínimas imprescindibles, favoreciendo los modelos no presenciales y, al mismo tiempo, se debe asumir de forma progresiva la carga de revisiones suprimidas durante el periodo de suspensión de toda actividad asistencial ambulatoria esencial. Los pacientes con ventilación mecánica domiciliaria, aunque heterogénea, suponen una población de especial vulnerabilidad que requiere de un seguimiento especifico. Se propone una estrategia de revisión de estos pacientes en función de la progresión y gravedad de la enfermedad. Resume: Currently, in the epidemiological context of a SARS-COV2 pandemic, without being able to determine how long it will last over time, there is a need to reorganize outpatient care to avoid face-to-face visits, reducing the number of consultations to a minimum essential, favouring non-face-to-face models and, at the same time, the burden of reviews suppressed during the period of suspension of all essential outpatient care activities must be progressively assumed. Patients with home mechanical ventilation (VMD), although heterogeneous, represent a population of special difficulties that requires special monitoring. A revision strategy for these patients is proposed based on the progression and severity of the disease.

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Objectives To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment. Patients A retrospective study (2006–2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analyzed. Results Seventeen out of 108 LD confirmed patients (15.7%) showed articular manifestations. Regarding those 17 patients, 64.7%, 29.4% and 5.9% presented arthritis, arthralgia and bursitis, respectively. The knee was the most affected joint. Articular manifestations were often associated to neurological, dermatological and cardiac pathologies. Otherwise, most patients were in Stage III. The 11.8% of the cases progressed to a recurrent chronic arthritis despite the administration of an appropriate treatment. Conclusions Lyme disease patients showing articular manifestations should be included in the diagnosis of articular affections in areas of high risk of hard tick bite, in order to establish a suitable and early treatment and to avoid sequels.

Resumen Objetivos Determinar el porcentaje de pacientes con clinica articular entre los enfermos de Lyme en el NO de Espana y conocer su evolucion y respuesta al tratamiento. Pacientes Se realizo un estudio retrospectivo (2006-2013) revisando las historias clinicas de los enfermos de Lyme con clinica articular. Se analizaron las manifestaciones clinicas, los datos de laboratorio, el tratamiento y la evolucion de los enfermos. Resultados Diecisiete de 108 pacientes confirmados como enfermos de Lyme (15,7%) presentaban clinica articular. De estos 17, el 64,7% presento artritis, el 29,4% artralgias y el 5,9% bursitis. La rodilla fue la articulacion mas afectada. La clinica articular se asocio frecuentemente a manifestaciones neurologicas, dermatologicas o cardiacas. La mayoria de los pacientes estaban en fase iii . El 11,8% evoluciono a artritis cronica recidivante, aunque recibieron tratamiento adecuado. Conclusiones En zonas con elevado riesgo de picadura por garrapatas, la presencia de clinica articular debe hacernos sospechar la posibilidad de una enfermedad de Lyme con objeto de establecer de forma precoz un tratamiento adecuado que evite secuelas.

Ixodes ricinus, comprising the predominant tick species in Europe, can transmit important human pathogens, including Borreliella spp., the causal agent of Lyme borreliosis. One hundred and seventy five roe deer hunted in two areas (plateau and mountain) of Galicia (northwest Spain) were examined for the presence of ticks; all roe deer were infested by I. ricinus. Nymphs (n = 1000), males (n = 1449) and females (n = 1000) of I. ricinus were analysed in pools of up to 10 ticks to detect both Borreliella and Borrelia DNA. The average number of I. ricinus per roe deer was similar in both areas, regardless of the life stage; although the percentage of Borreliella and Borrelia positive pools was higher in ticks collected from roe deer hunted in the plateau area, no significant differences were detected. Sequence analysis at the flagellin gene allowed the identification of four Borreliella species (Borreliella afzelii, Borreliella garinii, Borreliella lusitaniae and Borreliella valaisiana) and Borrelia miyamotoi in adult males; only B. valaisiana and B. miyamotoi were detected in nymphs and all females were negative. All Borreliella and Borrelia species found in roe deer were previously identified in questing I. ricinus collected in the same study area, although the prevalence was lower in the present study. The analysis of male I. ricinus ticks collected from roe deer gives a good estimation of Borreliella diversity in questing ticks.

Objetivo: Determinar la utilidad del diagnóstico precoz de la enfermedad de Lyme (EL) en los Centros de Atención Primaria (CAP) empleando el ELISA como técnica de cribado serológico. Métodos: Se realiza un estudio retrospectivo (2006-2013) consistente en la determinación mediante ELISA de la seropositividad a Borrelia de 2.842 personas consideradas en riesgo de padecer EL. Se estudia la relación entre el hábitat y la zona de residencia de las personas con seropositividad a Borrelia, según la procedencia de las muestras (CAP/Hospital). Resultados: El 15,2% de los sueros resultaron positivos frente a Borrelia spp. La seropositividad fue significativamente superior en las muestras remitidas desde los CAP que desde el Hospital y en los habitantes del rural y la montana˜ frente al área urbana y la meseta. El porcentaje de seropositividad se incrementó con el transcurso de los anos. ˜ Los médicos de Atención Primaria detectaron mayor porcentaje de enfermos de Lyme en Fase I y tras la instauración del tratamiento no se observaron secuelas. Conclusiones: El papel del médico de atención primaria es primordial en el diagnóstico precoz de la EL, constatándose un mayor porcentaje de seropositivos entre las muestras remitidas desde los CAP con predominio del diagnóstico en Fase I de enfermedad y la resolución sin secuelas. La detección de anticuerpos específicos frente a Borrelia, mediante ELISA, es una prueba útil para el cribado de pacientes en riesgo de EL Objective: The main aim of this study was to determine the usefulness of an early diagnosis of Lyme disease (LD) in Primary Health Care Centres (PHCC) using the ELISA test as serological screening technique. Methods: A retrospective study (2006-2013) was performed in order to determine the antiBorrelia seropositivity in 2,842 people at risk of having LD. The possible relationship between the environment and the area of residence with anti-Borrelia seropositivity was also studied according to the origin of the specimens (PHCC/Hospital). Results: Overall, 15.2% of samples were positive to Borrelia spp. Seropositivity was significantly higher in samples sent by PHCC doctors than those sent by Hospital doctors. Seropositivity was significantly higher in rural than in urban populations and in those who live in mountainous or flat areas. The percentage of seropositivity has increased over the years. Conclusions: The role of the PHCC doctor is essential for achieving an early diagnosis of Lyme disease, as a higher percentage of seropositives was detected in samples submitted from PHCC. Furthermore, most early localised LD patients were diagnosed in PHCC, avoiding the appearance of sequelae. Therefore, detection of Borrelia specific antibodies using an ELISA assay is a useful screening test for patients at risk of LD. Secretaría General de Universidades por la concesión de una ayuda para la estructuración de Grupos de Investigación Competitiva, modalidad de Grupos de Referencia Competitiva (GRC2015/003, Xunta de Galicia) SI

OBJECTIVE: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. METHODS: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. RESULTS: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemiplegia during nocturnal or daytime sleep heralded by inconsolable crying. Possible triggers included stress and sleep deprivation. Eleven of fourteen patients had a family history of migraine or 'intermittent headache' and two sets of siblings are reported. In one case, exome sequencing revealed a heterozygous 16p11.2 deletion involving 33 genes, including the PRRT2 gene. EEG showed ictal and/or interictal contralateral slowing in four patients. Treatment efficacy was generally disappointing. A complete disappearance of attacks appeared in nearly all cases at most recent follow-up. In a remarkably high number of cases (10/14, 71%), hyperactive behaviour was reported during follow-up. CONCLUSION: We underscore the phenotypic homogeneity including the self-limiting course of BNAHC episodes and suggest the condition be renamed 'benign childhood hemiplegia during sleep' (BCHS). We propose a role for the PRRT2 gene and the resulting neuronal hyperexcitability as one of its possible underpinning mechanisms and discuss the clinical similarities of BCHS with the recognized PRRT2-related disorders.

Background: Ixodes ricinus, the predominant tick species in Europe, can transmit the causative agents of important human diseases such as Lyme borreliosis (LB), caused by Borrelia spirochetes. In northern Spain, LB is considered endemic; recently, a significant increase of the annual incidence of LB was reported in the northwestern (NW) region. Methods: In order to provide information on the prevalence of Borrelia spp., pooled and individually free-living I. ricinus from NW Spain were molecularly analyzed. Positive samples were characterized at the fla and Glpq genes and the rrfA-rrlB intergenic spacer region to identify Borrelia species/genospecies. Results: Borrelia burgdorferi (sensu lato) (s.l.) individual prevalence and MIR were significantly higher in adult females (32.3 and 16%) than in nymphs (18.8 and 6.2%) and adult males (15.6 and 8.4%). Five Borrelia genospecies belonging to the B. burgdorferi (s.l.) group were identified: B. garinii was predominant, followed by B. valaisiana, B. lusitaniae, B. afzelii and B. burgdorferi (sensu stricto) (s.s.). One species belonging to the tick-borne relapsing fever group (B. miyamotoi) was also found, showing low individual prevalence (1%), positive pool (0.7%) and MIR (0.1%) values. To our knowledge, this is the first citation of B. miyamotoi in free-living ticks from Spain. Conclusions: The significant prevalences of B. burgdorferi (s.l.) genospecies detected in questing ticks from NW Spain are similar to those detected in northern and central European countries and higher to those previously found in Spain. These results together with the high incidence of LB in humans and the high seroprevalence of B. burgdorferi (s.l.) in roe deer shown in other studies reveal that the northwest area is one of the most risky regions for acquiring LB in Spain This research was supported by a postdoctoral research grant (Banco de Santander, Spain) to PD and a predoctoral research grant (Xunta de Galicia, Spain) to SR and funds from the Program for consolidating and structuring competitive research groups (GRC2015/003, Xunta de Galicia, Spain) SI

Objetivo Valorar la influencia de algunos factores de riesgo sobre la tasa de incidencia de la enfermedad Lyme y describir las principales manifestaciones clínicas de esta. Métodos Se realizó un estudio retrospectivo sobre esta enfermedad (2006-2013), en una zona del noroeste de España, incluyendo solo los pacientes que cumplían los criterios de vigilancia epidemiológica de los Centers for Disease Control and Prevention de los Estados Unidos. Resultados La tasa de incidencia varió entre 2,64 y 11,61 por 100.000 habitantes y año. Hubo diferencias significativas respecto al hábitat, la edad y la zona de residencia. Los pacientes presentaron manifestaciones neurológicas (67,59%), dermatológicas (47,22%), reumatológicas (15,74%) o cardiacas (13,88%), solas o combinadas. Conclusiones El incremento de esta enfermedad en el noroeste de España y las diferencias observadas entre las distintas zonas de una misma área sanitaria hacen necesario plantear estudios epidemiológicos que permitan aumentar el índice de sospecha diagnóstica e implementar medidas de prevención eficaces. Objective To evaluate the influence of some risk factors on the incidence rate of Lyme disease and the main clinical manifestations. Methods A retrospective study of Lyme disease (2006-2013) was performed in north-west Spain; we included only patients who fulfilled the epidemiological surveillance criteria defined by the Centers for Disease Control and Prevention. Results The incidence rate varied between 2.64 and 11.61/100,000 inhabitants/year. Significant differences were found in relation to habitat, age and area of residence. Patients showed neurological (67.59%), dermatological (47.22%), rheumatological (15.74%) and cardiac (13.88%) manifestations, alone or combined. Conclusions Due to the increase of the disease in north-west Spain and the differences observed between the different areas, epidemiological studies are needed that increase the index of diagnostic suspicion and lead to the implementation of effective prevention measures. SI

Introducción: el dolor anterior en la rodilla es un síntoma frecuente entre los deportistas. Puede tener múltiples causas incluido un desequilibrio muscular que puede determinar mal alineamiento o mayor presión femoropatelar. En la práctica clínica, se ha observado que la fibrolisis diacutánea proporciona buenos resultados en el tratamiento de estos pacientes. El objetivo del estudio es evaluar sus efectos sobre la distancia femoropatelar y sobre el dolor percibido en flexión de rodilla, en deportistas afectados de dolor anterior de rodilla. Material y método: estudio de intervención no controlado no aleatorizado, en deportistas con dolor anterior de la rodilla relacionado con la actividad deportiva. Se realizó una sesión de fibrolisis diacutánea y se evaluó, antes y después de la sesión, la distancia femoropatelar medida con ecografía y la intensidad de dolor (EVA) percibida en apoyo monopodal en posición de 90º de flexión de rodilla. Resultados: la media de edad de los participantes era 25,6 años (DE 6,36), 4 eran mujeres y 6 hombres. La intensidad de dolor (EVA) se redujo de 2,90 a 0,93 (p < 0,01). La distancia femoropatelar se incrementó significativamente en las tres referencias medidas: en el centro de la tróclea de 0,42 a 0,50 cm (p < 0,03), en la tróclea lateral de 0,22 a 0,31 cm (p < 0,02), y en la tróclea medial de 0,18 a 0,28 cm (p < 0,02). Discusión y conclusión: en la muestra de estudio, una sesión de fibrolisis diacutánea ha podido influir en la disminución de la intensidad del dolor y en el incremento de la distancia femoropatelar, lo que podría implicar una disminución de estrés sobre el cartílago probablemente por un mecanismo similar a los estiramientos musculares. La inmediatez de efectos observados aconseja utilizar fibrolisis diacutánea como coadyuvante del tratamiento conservador de estos pacientes.

Pyomyositis is an acute bacterial infection that affects striated muscle and is generally accompanied by the formation of an abscess. In most cases, the microorganism involved is Staphylococcus aureus. Clinical findings are characterized by pain, swelling and muscular edema, together with variable general symptoms. Complications include arthritis, osteomyelitis and even septic shock with a mortality of 1.8%. We report the case of an 8-year-old boy who sustained a closed lumbar injury on banging his shoulder while he was playing on a trampoline and who developed paravertebral pyomyositis complicated by sepsis. S. aureus was isolated in the blood culture. The boy subsequently developed a perivertebral abscess and finally contiguous osteomyelitis in the L3 spinous process. The patient received treatment with vancomycin and metronidazole for 6 weeks followed by cloxacillin therapy for 2 weeks (a total of 8 weeks of intravenous antibiotic therapy). Physical examination 3 months after discharge revealed no abnormalities. The possibility of pyomyositis should be borne in mind, especially in children with fever, localized muscular pain and a history of accidental or sports injuries. Early diagnosis and treatment are important to reduce the risk of possibly fatal complications.

Resume Le syndrome de Jarcho-Levin est une affection congenitale caracterisee par la presence de malformations vertebrales et costales a la naissance. Ce syndrome est generalement diagnostique chez des nouveau-nes de petite taille presentant un cou et un torse courts. Ces enfants presentent de multiples anomalies vertebrales a differents etages rachidiens, notamment des « vertebres papillon », des hemivertebres et des fusions de vertebres hypoplasiques. La petite taille du thorax des ces nouveau-nes entraine souvent une insuffisance respiratoire conduisant au deces au cours de l’enfance. Nous rapportons un nouveau cas d’un enfant ayant un torse et un cou courts ainsi que des anomalies vertebrales sans probleme respiratoire Une revue de la litterature est realisee.

Jarcho Levin syndrome is a congenital disorder characterized by the presence of rib and vertebral defects at birth. This syndrome is usually diagnosed in newborns with short neck and trunk and short stature. They present multiple vertebral anomalies at different levels of the spine, including “butterfly vertebrae”, hemivertebrae and fused hypoplastic vertebrae. The small size of the thorax in newborns frequently leads to respiratory compromise and death in infancy. We report a new case with short trunk and neck and vertebral and costal anomalies without respiratory problems. A literature review was conducted.

Internal carotid artery dissection has been associated with trivial trauma.1 We report a patient with internal carotid artery dissection related to a severe sea wave trauma to the cervical region. A right-handed 56-year-old man presented to the emergency room because of a 15-minute episode of dysarthria and left-hand numbness. Earlier that day, he had been in the sea. There was heavy surf with waves that were 0.5 to 1 m high. When he was distracted and with his neck turned to the left, a wave struck him, knocking him over. When he returned to shore, his wife noticed that he was disoriented and confused. These symptoms lasted approximately 30 minutes, and he later presented to …

Introduccion. La galactosemia es una enfermedad metabolica de herencia autosomica recesiva, en la que existe un deficit enzimatico que impide metabolizar la galactosa. Son tres los enzimas que podrian implicarse, pero el defecto de galactosa-1-fosfato-uridiltransferasa (GALT) es el mas frecuente. La incidencia es de dos casos por cada 100.000 recien nacidos. Como consecuencia de este defecto enzimatico el neonato, al ingerir leche, presentara una deterioro neurologico progresivo, cataratas y alteraciones en el aparato digestivo y renal. Es fundamental un diagnostico precoz para retirar de inmediato la galactosa de la dieta, lo que implica en el recien nacido suspender la lactancia materna y alimentarle con una leche de formula sin galactosa. Caso clinico. Recien nacido hembra, hija de padres consanguineos (primos en segundo grado) y de etnia gitana, diagnosticada de galactosemia con deficit total de GALT. Los primeros 10 dias de vida recibio leche de formula normal y presento hipotonia, letargia, ictericia, hepatomegalia, rechazo de la alimentacion, escasa ganancia ponderal e infeccion urinaria por germen gramnegativo. Tras conocer el diagnostico se retiro la galactosa de la dieta (se ofrecio leche de soja) y se normalizo de forma progresiva la exploracion fisica. Conclusion. Se trata de una patologia extremadamente infrecuente, pero de cuyo diagnostico y tratamiento precoz depende en gran mediada el futuro del paciente.

Introduction Meningitis due to Salmonella is an unusual sign of salmonellosis. Usually Salmonella causes clinical disorders of the digestive tract, but on occasions, especially in babies, may cause focalized infections such as meningitis. Although meningitis due to Salmonella is unusual, it should be remembered because of its gravity, since it has a high morbimortality. It mainly affects neonatal babies and those under 4 months of age. It usually precedes or is accompanied by gastroenteritis and has a rapid clinical course. Clinical case We present the case of a neonatal baby girl, 17 days old, who was very irritable, had liquid or semi-liquid faeces and high fever of unknown origin with poor response to antipyretic drugs. On lumbar puncture a cloudy liquid, compatible with bacterial meningitis was obtained. Treatment was therefore started immediately with intravenous ampicillin and cefotaxima. CSF culture grew Salmonella which was resistant to ampicillin but sensitive to cefotaxima. Antibiotic treatment was given for 21 days. There was excellent clinical recovery. After eight months of follow-up no sequelae have been seen and her development, both psychomotor, in height and in weight is normal for her age. Conclusion Meningitis due to Salmonella is an unusual condition. Immediate, suitable treatment is essential to obtain satisfactory recovery.