Asociación entre neuroimagen y secuelas neurológicas en pacientes con infección congénita por citomegalovirus / Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection

Introducción: La infección congénita por citomegalovirus (CMV) supone una importante causa de discapacidad. Existen escasas evidencias acerca del valor pronóstico de las lesiones presentes en los estudios de neuroimagen. Objetivo: Analizar la gravedad de las lesiones en la resonancia magnética (RM) y la ecografía transfontanelar, y su relación con déficits neurológicos a largo plazo. Pacientes y métodos: Se realizó un estudio observacional analítico retrospectivo de 36 pacientes con infección congénita por CMV. Se revisaron los estudios de neuroimagen y se clasificaron según la escala de Noyola et al. modificada. Se relacionaron los hallazgos de neuroimagen con la afectación neurológica en su última visita en la consulta de neuropediatría. Resultados: Un total de 36 pacientes fueron estudiados, habiéndose realizado ecografía transfontanelar en 30 y RM cerebral en 29. La ecografía transfontanelar estuvo alterada en 20/30 pacientes, de los cuales, 11 tuvieron alteración en la RM (p = 0,04) y 10 afectación neurológica (p = 0,008). Tuvo una sensibilidad del 83,3%, IC 90%: 58-100 y una especificidad del 44,4%, IC 90%: 18,7-70,2 para la predicción de secuelas neurológicas. La RM estuvo alterada en 20/29 pacientes. Dieciséis de ellos tuvieron afectación neurológica (p < 0,001), teniendo una sensibilidad del 94%, IC 95%: 80-100 y una especificidad del 66,6%, IC 95%: 36-97,5 para la predicción de secuelas neurológicas. Una escala de Noyola et al. ≥ 2 se asoció a retraso psicomotor (p < 0,001). Conclusión: Nuestro trabajo valida los estudios previos en los que se encuentra correlación estadísticamente significativa entre la extensión de las lesiones en neuroimagen y la gravedad de los déficits neurológicos. (AU)

Background: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. Aim: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. Patients and methods: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola’ scale. Imaging findings were compared with neurological alterations in the patients’ most recent follow-up evaluation at the paediatric neurology department. Results: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P=.04) and 10 had neurological impairment (P=.008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P<.001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola’ scale values >2 were correlated with psychomotor retardation (P<.001). Conclusions: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits. (AU)

Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection.

BACKGROUND: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. AIM: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. PATIENTS AND METHODS: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola' scale. Imaging findings were compared with neurological alterations in the patients' most recent follow-up evaluation at the paediatric neurology department. RESULTS: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P = .04) and 10 had neurological impairment (P = .008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P < .001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola' scale values > 2 were correlated with psychomotor retardation (P < .001). CONCLUSIONS: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits.

Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette / Quality of life and psychiatric comorbidities in pediatric patients with Gilles de la Tourette syndrome

Introducción: El síndrome de Gilles de la Tourette es un trastorno complejo que se acompaña habitualmente de comorbilidades psiquiátricas, como trastorno por déficit de atención/hiperactividad (TDAH), trastorno obsesivo-compulsivo (TOC), ansiedad o depresión. La calidad de vida de estos pacientes puede verse afectada por la gravedad de los tics y por la presencia de estas comorbilidades. Objetivos: Describir y relacionar la calidad de vida y las comorbilidades psiquiátricas en una muestra de pacientes pediátricos con síndrome de Gilles de la Tourette, así como proporcionar una versión en español del cuestionario Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (C&A-GTS-QOL) para medir la calidad de vida en esta población. Pacientes y métodos: Es un estudio transversal, observacional y unicéntrico. Se incluyó a pacientes entre 6 y 16 años con diagnóstico de síndrome de Tourette, de los cuales se recogieron datos demográficos y clínicos, así como diagnósticos y tratamientos previos. Se entregaron cuestionarios de gravedad de los tics, comorbilidad psiquiátrica y calidad de vida. Resultados: Se incluyó a 22 pacientes (86,4%, varones; mediana de edad, 11 años) con diagnóstico de síndrome de Gilles de la Tourette (según los criterios del Manual diagnóstico y estadístico de los trastornos mentales, quinta edición). El 86,4% tenía comorbilidades psiquiátricas diagnosticadas y el 72,7% recibía algún tratamiento. La prevalencia de ansiedad fue del 72,7%, la de depresión, del 50%, la de TDAH, del 40,9% y la de TOC, del 27,3%. La mediana de calidad de vida medida por el Pediatric Quality of Life Inventory (PedsQL) fue de 59,5 (rango intercuartílico: 34,8-71,3), y por la C&A-GTS-QOL, de 55,5 (rango intercuartílico: 45-65) (R2, 0,83; p < 0,01)...(AU)

Introduction: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities. Aim: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire C&A-GTS-QoL to measure quality of life in this population. Patients and methods: Single-center, observational, prospective study. Patients aged 6 to 16 years old with TS were included. Demographic, clinical, diagnostic and treatment data were gathered. Questionnaires regarding tic severity, psychiatric comorbidity and quality of life were used. Results: Twenty-two patients with DSM-5 diagnosis of TS were included (86.4% male, median age 11 years). Of those, 86.4% had been previously diagnosed of psychiatric comorbidities and 72.7% received psychopharmacologic treatment. The prevalence of an ICD-10 current diagnosis of anxiety was 72.7%, depression 50%, ADHD 40.9% and OCD 7.3%. Median QoL score was 59.5 (RIC: 34.8-71.3) for PedsQL, and 55.5 (RIC: 45-65) for C&A-GTS-QoL, with a correlation between scores of R2 = 0.83 (p < 0.01). Higher tic severity was associated with poorer QoL (PedsQL R2: –0.732, p <0.01, C&A-GTS-QoL R2: –0.501, p = 0.021). A higher EDAH score for ADHD was associated with poorer QoL (PedsQL R2: –0.463, p = 0.03, C&A-GTS-QoL R2-0.534, p < 0.01). Conclusion: Prevalence of psychiatric comorbidities in pediatric TS is high and frequently underdiagnosed. Tics and psychiatric comorbidities affect quality of life. Further studies are needed to validate the Spanish version of C&A-GTS-QoL scale.(AU)

Quality of life and psychiatric comorbidities in pediatric patients with Gilles de la Tourette syndrome. / Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette.

INTRODUCTION: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities. AIM: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire CandA-GTS-QoL to measure quality of life in this population. PATIENTS AND METHODS: Single-center, observational, prospective study. Patients aged 6 to 16 years old with TS were included. Demographic, clinical, diagnostic and treatment data were gathered. Questionnaires regarding tic severity, psychiatric comorbidity and quality of life were used. RESULTS: Twenty-two patients with DSM-5 diagnosis of TS were included (86.4% male, median age 11 years). Of those, 86.4% had been previously diagnosed of psychiatric comorbidities and 72.7% received psychopharmacologic treatment. The prevalence of an ICD-10 current diagnosis of anxiety was 72.7%, depression 50%, ADHD 40.9% and OCD 7.3%. Median QoL score was 59.5 (RIC: 34.8-71.3) for PedsQL, and 55.5 (RIC: 45-65) for CandA-GTS-QoL, with a correlation between scores of R2 = 0.83 (p < 0.01). Higher tic severity was associated with poorer QoL (PedsQL R2: -0.732, p <0.01, CandA-GTS-QoL R2: -0.501, p = 0.021). A higher EDAH score for ADHD was associated with poorer QoL (PedsQL R2: -0.463, p = 0.03, CandA-GTS-QoL R2-0.534, p < 0.01). CONCLUSION: Prevalence of psychiatric comorbidities in pediatric TS is high and frequently underdiagnosed. Tics and psychiatric comorbidities affect quality of life. Further studies are needed to validate the Spanish version of CandA-GTS-QoL scale.

TITLE: Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette.Introducción. El síndrome de Gilles de la Tourette es un trastorno complejo que se acompaña habitualmente de comorbilidades psiquiátricas, como trastorno por déficit de atención/hiperactividad (TDAH), trastorno obsesivo-compulsivo (TOC), ansiedad o depresión. La calidad de vida de estos pacientes puede verse afectada por la gravedad de los tics y por la presencia de estas comorbilidades. Objetivos. Describir y relacionar la calidad de vida y las comorbilidades psiquiátricas en una muestra de pacientes pediátricos con síndrome de Gilles de la Tourette, así como proporcionar una versión en español del cuestionario Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (CandA-GTS-QOL) para medir la calidad de vida en esta población. Pacientes y métodos. Es un estudio transversal, observacional y unicéntrico. Se incluyó a pacientes entre 6 y 16 años con diagnóstico de síndrome de Tourette, de los cuales se recogieron datos demográficos y clínicos, así como diagnósticos y tratamientos previos. Se entregaron cuestionarios de gravedad de los tics, comorbilidad psiquiátrica y calidad de vida. Resultados. Se incluyó a 22 pacientes (86,4%, varones; mediana de edad, 11 años) con diagnóstico de síndrome de Gilles de la Tourette (según los criterios del Manual diagnóstico y estadístico de los trastornos mentales, quinta edición). El 86,4% tenía comorbilidades psiquiátricas diagnosticadas y el 72,7% recibía algún tratamiento. La prevalencia de ansiedad fue del 72,7%, la de depresión, del 50%, la de TDAH, del 40,9% y la de TOC, del 27,3%. La mediana de calidad de vida medida por el Pediatric Quality of Life Inventory (PedsQL) fue de 59,5 (rango intercuartílico: 34,8-71,3), y por la CandA-GTS-QOL, de 55,5 (rango intercuartílico: 45-65) (R2, 0,83; p menor de 0,01). La gravedad de los tics se relacionó con una peor calidad de vida (PedsQL, R2: ­0,707; p menor de 0,01; y CandA-GTS-QOL, R2: ­0,501; p = 0,021). Una mayor puntuación la escala de Conners revisada para el TDAH se relacionó con peor calidad de vida (PedsQL, R2: ­0,463; p = 0,03; y CandA-GTS-QOL, R2: ­0,534; p menor de 0,01). Conclusión. La prevalencia de comorbilidades psiquiátricas en el síndrome de Gilles de la Tourette en nuestro medio es alta y frecuentemente infradiagnosticada. Los tics y las comorbilidades psiquiátricas afectan a la calidad de vida. Son necesarios estudios que validen la CandA-GTS-QOL.

[VI and VII cranial nerve injury secondary to intracranial idiopathic hypertension in a pediatric patient]. / Afectación del VI y el VII par craneal secundaria a hipertensión intracraneal idiopática en un paciente pediátrico.

TITLE: Afectación del VI y el VII par craneal secundaria a hipertensión intracraneal idiopática en un paciente pediátrico.

Sequence subtyping of Trichomonas gallinae from Bonelli's eagle (Aquila fasciata) during four years (2014-2017) reveals that MLS type is associated with lesions.

Avian trichomonosis is a parasitic disease that affects wild birds. The objective of this work was to determine the importance of avian trichomonosis in Bonelli's eagles to improve conservation measures in this population. One hundred and eighty-eight birds were studied: 181 chicks, two juveniles, one subadult and four adults. The birds were externally examined and gross lesions at the oropharynx registered. Samples from the oropharyngeal cavity were obtained for Trichomonas spp. detection by culture and PCR, and positive samples were subjected to a multilocus sequence typing approach, including the ITS1/5.8S/ITS2 region (ITS), ribosomal RNA small subunit (18S) and Fe-hydrogenase gene (FeHyd). Global prevalence of T. gallinae infection was 37.8% in total, 45.5% in nestlings. Thirty-three percent of the birds developed lesions that ranged from mild (n = 41) to moderate (n = 14) or severe (n = 7). Multilocus sequence typing analysis showed five different MLS types, ITS-A/18S-VI/FeHyd-A1 and ITS-D/18S-II/Fe-C4 being the most frequent. An association between ITS-A/18S-VI/FeHyd-A1 and moderate or severe lesions was observed, but birds with type ITS-A/18S-VI/FeHyd-A2 also developed lesions. On the contrary, birds with MLS type ITS-D/18S-II/FeHyd-C4 displayed only a low proportion of mild lesions. Chicks raised in nests were at higher risk for T. gallinae infection and development of lesions than chicks raised in captivity. Discordances between samples cultured in TYM and samples subjected to PCR from oropharyngeal swabs were observed, swab-ITS-PCR being more sensitive.RESEARCH HIGHLIGHTS 45.5% of Bonelli's eagles in the nest carried T. gallinae and 39.4% showed lesions.PCR from oral swabs showed higher sensitivity than culture in TYM for detection of T. gallinae.MLS types ITS-A/18S-VI/Fe-A1 (and A2) are a risk factor for the development of lesions.

Rapamicina oral: una alternativa en niños con anomalías vasculares complicadas / Oral rapamycin: an alternative in children with complicated vascular abnormalities

Objetivos: El uso del inhibidor mTOR sirolimus ha supuesto unavance en el tratamiento de pacientes con anomalías vasculares complicadas. El objetivo de este estudio es presentar nuestra serie de pacientespediátricos con anomalías vasculares tratados con sirolimus oral y haceruna revisión de la literatura al respecto. Material y métodos: Se realizó un análisis retrospectivo de lospacientes con anomalías vasculares complicadas tratados con sirolimusoral en nuestro centro desde el año 2016. La dosis inicial utilizada fuede 0,8 mg/m2 cada 12 horas y el rango terapéutico de 5-15 ng/ml. Todos los pacientes recibieron profilaxis con trimetoprim-sulfametoxazol. Resultados: Se incluyeron seis niños, tres varones y tres mujeres, con una edad media al inicio del tratamiento de 9,5 años. Trespresentaban una malformación linfática en cabeza y cuello, dos unamalformación venosa en miembro inferior y la última una malformación combinada linfática-venosa a nivel toracoabdominal. Todos habíanrecibido múltiples tratamientos previos sin mejoría. Tras el inicio desirolimus, cinco pacientes mejoraron clínicamente (tiempo medio 3,6meses) y cuatro radiológicamente (tiempo medio 6,6 meses). Se registraron efectos adversos leves y transitorios en tres casos. Actualmente,cinco pacientes continúan con el tratamiento. Conclusiones: El sirolimus oral es un tratamiento eficaz y seguroen pacientes con anomalías vasculares complicadas. Nuestros resultadosapoyan su uso en malformaciones linfáticas y venosas en las que hanfracasado otros tratamientos, presentando buenas respuestas sintomáticasy, en menor medida, radiológicas.(AU)

Objective: Sirolimus mTOR inhibitor represents a major advancein the treatment of patients with complicated vascular abnormalities.The objective of this study was to present our series of pediatric patientswith vascular abnormalities treated with oral sirolimus, and to conducta review of the relevant literature. Materials and methods: A retrospective analysis of patients withcomplicated vascular abnormalities treated with oral sirolimus in ourhealthcare facility from 2016 was carried out. Initial dosage was 0.8 mg/m 2 every 12 hours, and therapeutic range was 5-15 ng/ml. All patientsreceived trimethoprim-sulfamethoxazole prophylaxis. Results: 6 children –3 boys and 3 girls– with a mean age of 9.5years at treatment initiation were included. 3 of them had head and necklymphatic malformation, 2 had lower limb venous malformation, and 1had combined lymphatic-venous malformation at the thoracoabdominal level. They all had received multiple previous treatments withoutimprovement. Following sirolimus initiation, 5 patients had clinicalimprovement (mean time: 3.6 months) and 4 had radiological improvement (mean time: 6.6 months). Mild and transitory adverse effects werenoted in the 3 cases. Today, 5 patients remain under treatment. Conclusions: Oral sirolimus is an effective and safe treatment inpatients with complicated vascular abnormalities. Our results supportsirolimus use in lymphatic and venous malformations in which previoustreatments have failed, with a good symptomatic and, to a lesser extent,radiological response.(AU)

[Sudden paralysis of upward gaze in a 9-year-old girl]. / Parálisis súbita de la supraversión de la mirada en una niña de 9 años.

TITLE: Parálisis súbita de la supraversión de la mirada en una niña de 9 años.

Oral rapamycin: an alternative in children with complicated vascular abnormalities. / Rapamicina oral: una alternativa en niños con anomalías vasculares complicadas.

OBJECTIVE: Sirolimus mTOR inhibitor represents a major advance in the treatment of patients with complicated vascular abnormalities. The objective of this study was to present our series of pediatric patients with vascular abnormalities treated with oral sirolimus, and to conduct a review of the relevant literature. MATERIAL AND METHODS: A retrospective analysis of patients with complicated vascular abnormalities treated with oral sirolimus in our healthcare facility from 2016 was carried out. Initial dosage was 0.8 mg/m2 every 12 hours, and therapeutic range was 5-15 ng/ml. All patients received trimethoprim-sulfamethoxazole prophylaxis. RESULTS: 6 children -3 boys and 3 girls- with a mean age of 9.5 years at treatment initiation were included. 3 of them had head and neck lymphatic malformation, 2 had lower limb venous malformation, and 1 had combined lymphatic-venous malformation at the thoracoabdominal level. They all had received multiple previous treatments without improvement. Following sirolimus initiation, 5 patients had clinical improvement (mean time: 3.6 months) and 4 had radiological improvement (mean time: 6.6 months). Mild and transitory adverse effects were noted in the 3 cases. Today, 5 patients remain under treatment. CONCLUSIONS: Oral sirolimus is an effective and safe treatment in patients with complicated vascular abnormalities. Our results support sirolimus use in lymphatic and venous malformations in which previous treatments have failed, with a good symptomatic and, to a lesser extent, radiological response.

OBJETIVOS: El uso del inhibidor mTOR sirolimus ha supuesto un avance en el tratamiento de pacientes con anomalías vasculares complicadas. El objetivo de este estudio es presentar nuestra serie de pacientes pediátricos con anomalías vasculares tratados con sirolimus oral y hacer una revisión de la literatura al respecto. MATERIAL Y METODOS: Se realizó un análisis retrospectivo de los pacientes con anomalías vasculares complicadas tratados con sirolimus oral en nuestro centro desde el año 2016. La dosis inicial utilizada fue de 0,8 mg/m2 cada 12 horas y el rango terapéutico de 5-15 ng/ml. Todos los pacientes recibieron profilaxis con trimetoprim-sulfametoxazol. RESULTADOS: Se incluyeron seis niños, tres varones y tres mujeres, con una edad media al inicio del tratamiento de 9,5 años. Tres presentaban una malformación linfática en cabeza y cuello, dos una malformación venosa en miembro inferior y la última una malformación combinada linfática-venosa a nivel toracoabdominal. Todos habían recibido múltiples tratamientos previos sin mejoría. Tras el inicio de sirolimus, cinco pacientes mejoraron clínicamente (tiempo medio 3,6 meses) y cuatro radiológicamente (tiempo medio 6,6 meses). Se registraron efectos adversos leves y transitorios en tres casos. Actualmente, cinco pacientes continúan con el tratamiento. CONCLUSIONES: El sirolimus oral es un tratamiento eficaz y seguro en pacientes con anomalías vasculares complicadas. Nuestros resultados apoyan su uso en malformaciones linfáticas y venosas en las que han fracasado otros tratamientos, presentando buenas respuestas sintomáticas y, en menor medida, radiológicas.

Oral trichomonosis: Description and severity of lesions in birds in Spain.

Avian trichomonosis is a parasitic disease caused by the flagellated protozoan Trichomonas gallinae. Columbiformes are the reservoir host of the parasite, with high levels of infection, but also other domestic and wild birds from a variety of orders are susceptible to the infection and development of gross lesions. In this paper we describe the type and severity of lesions in wild birds in four avian orders (Accipitriformes, Falconiformes, Strigiformes and Columbiformes). A total of 94 clinical cases diagnosed of trichomonosis were selected for the categorization of their lesions in the upper digestive tract. The affected birds were classified into three different categories (mild, moderate and severe) based on size (in relation to the tracheal opening), depth and location of the lesions. Mild cases are those with small and superficial lesions far from the oropharyngeal opening; moderate cases possess larger and deeper lesions, and severe cases very large and deep lesions that impede swallowing or affect the skull. Mild lesions were found in 10.6 % of cases; moderate lesions were observed in 18.1 % of the birds and severe lesions in 71.3 %. Treatment outcomes in birds with either mild or moderate lesions were favorable, while severe lesions were related to poor body score, leading to death or euthanasia in most cases. A relationship between severe lesions and avian order was found, with a higher percentage of birds with this type in Falconiformes, Columbiformes and Strigiformes. Multifocal lesions were more frequent in Columbiformes and Falconiformes. In Strigiformes, 93.3 % of birds showed lesions in the upper jaw. This study seeks to further understanding of avian trichomonosis and to provide information that will be useful to veterinarians and related professionals for assessment, prognosis and treatment choice for these birds.

Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection. / Asociación entre neuroimagen y secuelas neurológicas en pacientes con infección congénita por citomegalovirus.

BACKGROUND: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. AIM: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. PATIENTS AND METHODS: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola' scale. Imaging findings were compared with neurological alterations in the patients' most recent follow-up evaluation at the paediatric neurology department. RESULTS: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P=.04) and 10 had neurological impairment (P=.008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P<.001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola' scale values >2 were correlated with psychomotor retardation (P<.001). CONCLUSIONS: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits.

Molecular characterization of congenital myasthenic syndromes in Spain.

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far. These data provide an overview on the relative frequencies of the different CMS subtypes in a large Spanish population. CHRNE mutations are the most common cause of CMS in Spain, accounting for 27% of the total. The second most common are RAPSN mutations. We found a higher rate of GFPT1 mutations in comparison with other populations. Remarkably, several founder mutations made a large contribution to CMS in Spain: RAPSN c.264C > A (p.Asn88Lys), CHRNE c.130insG (Glu44Glyfs*3), CHRNE c.1353insG (p.Asn542Gluf*4), DOK7 c.1124_1127dup (p.Ala378Serfs*30), and particularly frequent in Spain in comparison with other populations, COLQ c.1289A > C (p.Tyr430Ser). Furthermore, we describe phenotypes and distinguishing clinical signs associated with the various CMS genes which might help to identify specific CMS subtypes to guide diagnosis and management.

Novel avian oropharyngeal trichomonads isolated from European turtle doves (Streptopelia turtur) and racing pigeons (Columba livia): genetic and morphometric characterisation of clonal cultures.

Extensive diversity has been described within the avian oropharyngeal trichomonad complex in recent years. In this study we developed clonal cultures from four isolates selected by their different ITS1/5.8S/ITS2 (ITS) genotype and their association with gross lesions of avian trichomonosis. Isolates were obtained from an adult racing pigeon and a nestling of Eurasian eagle owl with macroscopic lesions, and from a juvenile wood pigeon and an European turtle dove without clinical signs. Multi-locus sequence typing analysis of the ITS, small subunit of ribosomal rRNA (SSUrRNA) and Fe-hydrogenase (Fe-hyd) genes together with a morphological study by optical and scanning electron microscopy was performed. No significant differences in the structures were observed with scanning electron microscopy. However, the genetic characterisation revealed novel sequence types for the SSUrRNA region and Fe-hyd gene. Two clones were identified as Trichomonas gallinae in the MLST analysis, but the clones from the racing pigeon and European turtle dove showed higher similarity with Trichomonas tenax and Trichomonas canistomae than with T. gallinae at their ITS region, respectively. SSUrRNA sequences grouped all the clones in a clade that includes T. gallinae, T. tenax and T. canistomae. Further diversity was detected within the Fe-hyd locus, with a clear separation from T. gallinae of the clones obtained from the racing pigeon and the European turtle dove. In addition, morphometric comparison by optical microscopy with clonal cultures of T. gallinae revealed significant statistical differences on axostyle projection length in the clone from the European turtle dove. Morphometric and genetic data indicate that possible new species within the Trichomonas genus were detected. Taking in consideration the diversity in Trichomonas species present in the oral cavity of birds, a proper genetic analysis is highly recommended when outbreaks occur.

Ischaemic stroke in children with cardiopathy: An epidemiological study. / Ictus isquémico en niños con cardiopatía: estudio epidemiológico.

INTRODUCTION: Ischaemic stroke is rare during childhood. Congenital and acquired heart diseases are one of the most important risk factors for arterial ischaemic stroke (AIS) in children. PATIENTS AND METHODS: We conducted a retrospective study of all children with AIS and heart disease diagnosed between 2000 and 2014. RESULTS: We included 74 children with heart disease who were eligible for inclusion. 60% were boys with a mean stroke age of 11 months. 20% of the patients died during the study period. 90% of the patients had a congenital heart disease, while cyanotic heart disease was identified in 60%. Hypoplastic left heart syndrome was the most frequent heart disease. In 70% of patients AIS was directly associated with heart surgery, catheterisation or ventricular assist devices. Most patients with AIS were in the hospital. Seizures and motor deficit were the most frequent symptoms. Most patient diagnoses were confirmed by brain CT. The AIS consisted of multiple infarcts in 33% of the cases, affected both hemispheres in 27%, and involved the anterior and posterior cerebral circulation in 10%. CONCLUSIONS: Arterial ischaemic strokes were mainly associated with complex congenital heart diseases, and heart procedures and surgery (catheterisation). AIS presented when patients were in-hospital and most of the patients were diagnosed in the first 24hours.

[Visuospatial functions and prematurity]. / Funciones visuoespaciales y prematuridad.

Visuospatial functions are very important in learning process and development of abstract thought during childhood. Several studies show that preterm and low birth weight infants obtain lower scores in test that assess cognitive functions, specially in the first year of life. These differences are attenuated over time, but a developmental delay that affects working memory and visuospatial process still persists. It is unclear what factors are involved in development of these functions, and pre- or perinatal factors may interfere with the proper conduct of the same, but have been described anatomical and physiological differences between the preterm and term brain that could explain somewhere in these alterations. The different selective vulnerability to hypoxia between immature brain in which preoligodendrocytes and subplate neurons predominate, and mature brain, determine differences in the pattern of injury from hypoxia with greater involvement of the periventricular white matter in preterm children. This lesional pattern leaves to a dysfunction in attentional and visuospatial process, due to the increased vulnerability of the regions involved in the dorsal pathway of visual processing.

TITLE: Funciones visuoespaciales y prematuridad.Durante la infancia, las funciones visuoespaciales son importantes en los procesos de aprendizaje y en el desarrollo del pensamiento abstracto. Diferentes estudios muestran que los niños prematuros o con bajo peso al nacer obtienen menores puntuaciones en los tests que valoran las funciones cognitivas, siendo estas diferencias mas pronunciadas durante el primer año de vida. Con el tiempo, estas diferencias se van atenuando, pero persiste un retraso madurativo que afecta a la memoria de trabajo y a los procesos visuoespaciales. No esta claro cuales son los factores implicados en el desarrollo de estas funciones y que factores pre o perinatales pueden interferir en su buen desarrollo, pero se han descrito diferencias anatomicas y fisiologicas entre el cerebro del niño pretermino y el termino que podrian explicar, en parte, alguna de estas alteraciones. La diferente vulnerabilidad selectiva a la hipoxia entre el cerebro inmaduro, en el que predominan las neuronas de la subplaca y los preoligodendrocitos, y el cerebro maduro del niño nacido a termino determinan diferencias en el patron de lesion por hipoxia con mayor afectacion de la sustancia blanca periventricular en el niño pretermino. Este patron lesional conlleva una disfuncion en los procesos atencionales y visuoespaciales debido a la mayor vulnerabilidad de las regiones que intervienen en la ruta dorsal del procesamiento visual.

Genetic characterization of oropharyngeal trichomonad isolates from wild birds indicates that genotype is associated with host species, diet and presence of pathognomonic lesions.

Oropharyngeal trichomonad isolates of wild birds from Spain were studied. A total of 1688 samples (1214 of predator birds and 474 of prey species) from wildlife recovery centres and scientific bird-ringing campaigns were analysed from 2011 to 2013. The overall infection prevalence was 20.3% (11.4% in predator birds and 43.3% in prey species). Pathognomonic lesions were present in 26% of the infected birds (57.3% in predator birds and 4.9% in prey species). The most commonly parasitized species were the goshawk (Accipiter gentilis, 74.5%) and the rock pigeon (Columba livia, 79.4%). Host species in which the parasite has not been previously analysed by polymerase chain reaction and sequencing in Spain are also reported: Columba palumbus, Streptopelia turtur, Pica pica, A. gentilis, Accipiter nisus, Asio otus, Bubo bubo, Buteo buteo, Circus aeruginosus, Circus cyaneus, Falco naumanni, Falco peregrinus, Neophron percnopterus, Otus scops, Pernis apivorus and Strix aluco. Sequence analysis of the ITS1/5.8S/ITS2 region revealed five different genotypes and also some mixed infections. A relationship between genotype and host species was observed, but only two genotypes (ITS-OBT-Tg-1and ITS-OBT-Tg-2) were widely distributed. Genotype ITS-OBT-Tg-1 was most frequently found in predator birds and statistically associated with pathognomonic lesions. Non-strict ornithophagous species were at higher risk to develop disease than ornithophagous ones. Genotypes ITS-OBT-Tcl-1 and ITS-OBT-Tcl-2 are new reports, and ITS-OBT-Tvl-5 is reported for the first time in Spain. They showed higher genetic homology to Trichomonas canistomae and Trichomonas vaginalis than to Trichomonas gallinae, indicating the possibility of new species within this genus.