Caso clínico de enfermedad de Fabry / Clinical case study of Fabry disease

La enfermedad de Fabry (EF) es una enfermedad hereditaria y progresiva de almacenamiento lisosómico que puede comprometer la vida del paciente y cuyo diagnóstico suele dilatarse en el tiempo debido a una inadecuada identificación de las manifestaciones clínicas. Se describe un caso clínico de EF diagnosticado en edad pediátrica, cuyos principales síntomas experimentados durante la infancia eran daño neuropático, problemas gastrointestinales, hipohidrosis e intolerancia al frío y al calor. Tras iniciar terapia enzimática sustitutiva (TES) a los 14 años, el paciente experimentó una mejoría clínica en los diferentes síntomas que padecía, y las concentraciones de liso-GL3 en plasma disminuyeron de manera considerable. Ello sugiere que la TES podría enlentecer la progresión de la enfermedad e incluso favorecen la remisión de algunas manifestaciones clínicas en estos pacientes, con la mejora del pronóstico a largo plazo. Una detección precoz de la enfermedad y un inicio temprano del tratamiento son fundamentales para una mayor efectividad del mismo

Fabry disease (FD) is a hereditary, progressive lysosomal storage disorder that can threaten the patient’s life and diagnosis of which is often slow because of poor identification of the clinical symptoms. A clinical case of FD diagnosed at paediatric age is described here. The main symptoms experienced during childhoad were neuropathic damage, gastrointestinal problems, hypohidrosis and intolerance of heat and cold. After starting enzyme replacement therapy (ERT) at 14 years old, the patient experienced a clinical improvement in the different symptoms suffered, and plasma lyso-GL3 levels fell considerably. It suggests that ERT currently could offers the possibility of delaying the progression of the illness and even encourage the emission of some clinical symptoms in these patients, with an improved long-term prognosis. Early detection of the disease and starting treatment early are essential to ensure greater effectiveness

Waning protection of influenza vaccination during four influenza seasons, 2011/2012 to 2014/2015.

BACKGROUND: Concerns have been raised about intraseasonal waning of the protection conferred by influenza vaccination. METHODS: During four influenza seasons, we consecutively recruited individuals aged 18years or older who had received seasonal influenza vaccine and were subsequently admitted to the hospital for influenza infection, asassessed by reverse transcription polymerase chain reaction. We estimated the adjusted odds ratio (aOR) of influenza infection by date of vaccination, defined by tertiles, as early, intermediate or late vaccination. We used a test-negative approach with early vaccination as reference to estimate the aOR of hospital admission with influenza among late vaccinees. We conducted sensitivity analyses by means of conditional logistic regression, Cox proportional hazards regression, and using days between vaccination and hospital admission rather than vaccination date. RESULTS: Among 3615 admitted vaccinees, 822 (23%) were positive for influenza. We observed a lower risk of influenza among late vaccinees during the 2011/2012 and 2014/2015A(H3N2)-dominant seasons: aOR=0.68 (95% CI: 0.47-1.00) and 0.69 (95% CI: 0.50-0.95). We found no differences in the risk of admission with influenza among late versus early vaccinees in the 2012/2013A(H1N1)pdm09-dominant or 2013/2014B/Yamagata lineage-dominant seasons: aOR=1.18 (95% CI: 0.58-2.41) and 0.98 (95% CI: 0.56-1.72). When we restricted our analysis to individuals aged 65years or older, we found a statistically significant lower risk of admission with influenza among late vaccinees during the 2011/2012 and 2014/2015A(H3N2)-dominant seasons: aOR=0.61 (95% CI: 0.41-0.91) and 0.69 (95% CI: 0.49-0.96). We observed 39% (95% CI: 9-59%) and 31% (95% CI: 5-50%) waning of vaccine effectiveness among participants aged 65years or older during the two A(H3N2)-dominant seasons. Similar results were obtained in the sensitivity analyses. CONCLUSION: Waning of vaccine protection was observed among individuals aged 65years old or over in two A(H3N2)-dominant influenza seasons.

XVI Congreso SEINAP. Bebidas vegetales en el niño pequeño. Riesgos nutricionales / XVI Congreso SEINAP. Vegetable drinks in small children. Nutritional risk

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Venopunción en el dorso de la mano. ¿Una alternativa a la punción del talón? / Back-of-the hand venepuncture. An alternative to heel puncture?

Introducción: La determinación de pruebas metabólicas en los recién nacidos (hipotiroidismo y fenilcetonuria) mediante punción de talón es un método doloroso. La venopunción podría suponer un método alternativo de extracción. Objetivos: Evaluar la eficacia y la repuesta al dolor obtenida mediante punción venosa en el dorso de la mano en comparación con la punción de talón en la realización de pruebas metabólicas, y la detección de posibles diferencias en cuanto a los resultados de TSH. Material y métodos: Estudio observacional descriptivo aleatorizado con 607 recién nacidos consecutivos asignados a 2 grupos: grupo venopunción (n=280), y grupo punción de talón (n=327). Se estudió la respuesta al dolor utilizando una escala de dolor (escala NIPS), y latencia y duración del llanto, eficacia de la prueba valorando el número de punciones necesarias y duración de la prueba, y comparación de falsos positivos para el hipotiroidismo congénito. Resultados: La extracción por venopunción fue menos dolorosa que la realizada mediante punción de talón en la escala NIPS (scores de 2 vs 5, p<0,001). Iniciaron llanto en el primer minuto el 57,8% de los niños con venopunción frente al 90,2% de los niños con punción de talón (p<0,0001). Los niños con venopunción lloraron menos tiempo (58 s) que los niños con extracción por punción de talón (104 s). La duración de la prueba y el número de pinchazos necesarios fueron también menores con la venopunción (60 vs. 120 s). No hubo diferencias en cuanto al número de casos con TSH mayor de 5 o mayor o igual a 9 mU/ml. Conclusiones: La venopunción para la realización de pruebas metabólicas es más rápida y menos dolorosa, y no aumenta la frecuencia de falsos positivos en el cribado del hipotiroidismo(AU)

Introduction: Using heel puncture by lancets for the determination of metabolic tests (hypothyroidism and phenylketonuria) using heel puncture is a very painful procedure. Venepuncture can be used as an alternative. Objectives: To determine whether venepuncture in the dorsal side of the hand is less painful and more efficient than heel puncture in the screening test for inborn errors of metabolism, as well as comparing false positives in the hypothyroidism test. Material and methods: We tested 607 consecutives newborns in an observational, randomised study (280 with venepuncture, and 327 with heel puncture). Pain response was assessed using the Neonatal/Infant Pain Scale (NIPS), and the delay and duration of the first cry. We measured the number of punctures needed, and the time taken to complete the test, as well as the number of false positives in the hypothyroidism test. Results: Venepuncture was less painful than heel prick (NIPS 2 vs 5, P<0.001), as well as in the delay (crying in 57.8% vs 90.2%, P<0.0001) and duration of the cry (58 vs 104 seconds). Venepuncture was also faster (60 vs 120 seconds), and required less puncture attempts. There were no differences in cases with TSH greater than 5mU/mL, or greater than or equal to 9 mU/mL. Conclusions: Venepuncture is associated with less pain, is faster to perform and not is associated with more false positive cases(AU)

[Back-of-the hand venepuncture. An alternative to heel puncture?]. / Venopunción en el dorso de la mano. ¿Una alternativa a la punción del talón?

INTRODUCTION: Using heel puncture by lancets for the determination of metabolic tests (hypothyroidism and phenylketonuria) using heel puncture is a very painful procedure. Venepuncture can be used as an alternative. OBJECTIVES: To determine whether venepuncture in the dorsal side of the hand is less painful and more efficient than heel puncture in the screening test for inborn errors of metabolism, as well as comparing false positives in the hypothyroidism test. MATERIAL AND METHODS: We tested 607 consecutives newborns in an observational, randomised study (280 with venepuncture, and 327 with heel puncture). Pain response was assessed using the Neonatal/Infant Pain Scale (NIPS), and the delay and duration of the first cry. We measured the number of punctures needed, and the time taken to complete the test, as well as the number of false positives in the hypothyroidism test. RESULTS: Venepuncture was less painful than heel prick (NIPS 2 vs 5, P<.001), as well as in the delay (crying in 57.8% vs 90.2%, P<.0001) and duration of the cry (58 vs 104 seconds). Venepuncture was also faster (60 vs 120seconds), and required less puncture attempts. There were no differences in cases with TSH greater than 5mU/mL, or greater than or equal to 9 mU/mL. CONCLUSIONS: Venepuncture is associated with less pain, is faster to perform and not is associated with more false positive cases.

Gastroenteritis vírica en niños hospitalizados. Estudio prospectivo multicéntrico / Viral gastroenteritis in hospitalized children. A multicentre prospective study

Introducción: El objetivo de este estudio fue determinar prospectivamente la etiología vírica de la gastroenteritis aguda (GEA) en lactantes hospitalizados, así como describir las características clínicas de los principales virus. Pacientes y métodos: Desde octubre de 2006 hasta marzo de2007, se realizó el seguimiento de todos los niños de 1-23 meses de edad hospitalizados en tres hospitales, desde el momento de la admisión hasta las 72 horas tras el alta, para detectarla presencia de GEA. Se analizó una muestra de heces de los niños con GEA para la detección de rotavirus, calicivirus (norovirus y sapovirus), astrovirus y adenovirus mediante transcripción inversa y reacción en cadena de la polimerasa. Resultados: De un total de 1.576 pacientes hospitalizados, se pudo realizar el seguimiento de 1.300 (82,5%), que han constituido nuestra cohorte de estudio. Un total de 242 niños tuvieron GEA (un 18,6% de la cohorte), obteniéndose muestra de heces de 217 (89,7%). En 91 casos (42%) se detectaron rotavirus, en 72 norovirus (33,2%), en 7 astrovirus (3,2%) y en2 adenovirus; no se detectó sapovirus en ningún caso. Trece niños (6%) presentaron infecciones mixtas por dos o más virus, y 32 (14,7%) resultaron negativos para todos los virus analizados. En los casos de GEA por norovirus se observa menor apatía y pérdida de peso que en los casos de rotavirus, pero mayorporcentaje de heces con sangre.Conclusiones: Los virus son una causa frecuente de GEA enlos niños menores de 2 años hospitalizados; el principal virus hallado es el rotavirus, seguido del norovirus. Debido a las escasas diferencias clínicas observadas entre rotavirus y norovirus, es necesaria su determinación analítica para su diferenciación (AU)

Introduction: The objective of this study was to determine prospectively the viral etiology of acute gastroenteritis (AGE) in hospitalized weaning babies and describe the clinical characteristics of the principal virus detected. Patients and methods: All children aged 1 to 23 months admitted to 3 hospitals during October 2006-March 2007 were followed for the presence of AGE from the time of hospital admission until 72 hours after hospital discharge. A stool sample of children with AGE was tested for calicivirus (norovirus and sapovirus), rotavirus, adenovirus and astrovirus by RT-PCR. Results: Of the 1,576 hospitalized children, 1,300 (82.5%)were fully monitored being our study cohort. A total of 242children had AGE (18.6% of the cohort) and stool samples from217 children were obtained (89.7%). In 91 cases (42%) were positive to rotavirus, 72 (33.2%) to norovirus, 7 (3.2%) to astrovirus, and in 2 to adenovirus, not detecting sapovirus in any case, 13 children (6%) showed mixed infections by two or more viruses and 32 (14.7%) cases were negative for the analyzed virus. Norovirus AGE have less apathy and weight loss than thecases of rotavirus but a higher percentage of stools with blood. Conclusions: The viruses are a frequent cause of AGE among the hospitalized children of less than 2 years of age being rotavirus the principal virus found followed by norovirus. Few clinical differences were observed between rotavirus and norovirus and analytical determination is necessary for their differentiation (AU)

Hiperpigmentación congénita siguiendo las líneas de Blaschko / Congenital hyperpigmentation along the lines of Blaschko

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Balanitis y proctitis por estreptococo del grupo A / Balanitis and proctitis caused by group A streptococcus

Se presenta un caso de enfermedad perianal estreptocócica asociada a balanopostitis (AU)