Clinical Features and Natural History of Paediatric Patients with Ulcerative Proctitis: A Multicentre Study from the Paediatric IBD Porto Group of ESPGHAN.

BACKGROUND AND AIMS: Ulcerative proctitis [UP] is an uncommon presentation in paediatric patients with ulcerative colitis. We aimed to characterize the clinical features and natural history of UP in children, and to identify predictors of poor outcomes. METHODS: This was a retrospective study involving 37 sites affiliated with the IBD Porto Group of ESPGHAN. Data were collected from patients aged <18 years diagnosed with UP between January 1, 2016 and December 31, 2020. RESULTS: We identified 196 patients with UP (median age at diagnosis 14.6 years [interquartile range, IQR 12.5-16.0]), with a median follow-up of 2.7 years [IQR 1.7-3.8]. The most common presenting symptoms were bloody stools [95%], abdominal pain [61%] and diarrhoea [47%]. At diagnosis, the median paediatric ulcerative colitis activity index [PUCAI] score was 25 [IQR 20-35], but most patients exhibited moderate-severe endoscopic inflammation. By the end of induction, 5-aminosalicylic acid administration orally, topically or both resulted in clinical remission rates of 48%, 48%, and 73%, respectively. The rates of treatment escalation to biologics at 1, 3, and 5 years were 10%, 22%, and 43%, respectively. In multivariate analysis, the PUCAI score at diagnosis was significantly associated with initiation of systemic steroids, or biologics, and subsequent acute severe colitis events and inflammatory bowel disease-associated admission, with a score ≥35 providing an increased risk for poor outcomes. By the end of follow-up, 3.1% of patients underwent colectomy. Patients with UP that experienced proximal disease progression during follow-up [48%] had significantly higher rates of a caecal patch at diagnosis and higher PUCAI score by the end of induction, compared to those without progression. CONCLUSION: Paediatric patients with UP exhibit high rates of treatment escalation and proximal disease extension.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by mass spectrometry (MS)/MS. Newborns with alterations were referred to the clinical centers for follow-up. Biochemical and molecular genetic studies for confirmation of a disease were performed. In the period 2011 to 2019, 592 822 children were screened: 902 of them were referred for abnormal results. An IEM was confirmed in 222 (1/2670): aminoacidopathies: 89 hyperphenylalaninemia (HPA) (51 benign HPA, 32 phenylketonuria, 4 DNAJC12 defect, and 2 primapterinuria), 6 hypermethioninemia, 3 tyrosinemia type 1 (TYR-1), 1 TYR-3, 4 maple syrup urine disease (MSUD), 2 branched-chain amino acid transferase 2 deficiency, 2 homocystinuria, 1 cystinuria, 2 ornithine transcarbamylase (OTC) deficiency, 2 citrullinemia type I (CTLN1); FAO defects: 43 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 13 very long-chain acyl-CoA dehydrogenase deficiency, 2 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), 1 multiple acyl-coA dehydrogenation deficiency, 11 systemic primary carnitine deficiency, 2 carnitine palmitoyltransferase type 2 (CPT-II) deficiency, 1 CPT-I deficiency; organic acidurias: 12 glutaric aciduria type 1 (GA-1), 4 methylmalonic acidemia (MMA), 7 MMA including combined cases with homocystinuria (MMAHC), 6 propionic acidemia (PA), 7 3-methylcrotonyl-CoA carboxylase, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency lyase deficiency. Only 19 infants (8.5%) were symptomatic at newborn screening result (1 LCHADD, 5 PA, 1 CPT-II deficiency, 1 MMA, 3 MMAHC, 2 MSUD, 2 OTC deficiency, 1 CTLN1, 1 MCADD, 2 TYR-1). No false negative cases were identified. Genetic diagnosis was conclusive in all biochemically confirmed cases, except for two infants with HPA, identifying pathogenic variants in 32 different genes. The conditions with the highest incidence were HPA (1/6661) and MCAD deficiencies (1/13 787).

Validity and Reliability of a Nutritional Screening Tool (SCAN) in Children Newly Diagnosed with Cancer.

No standardized approach towards nutritional screening and assessment of pediatric oncology patients has been established. The nutrition screening tool for childhood cancer (SCAN) has been previously published as an effective screening method. This is an observational cross-sectional study to assess the validity and reliability of the SCAN tool, compare it to the detection of undernutrition using standard measures of assessment, and determine the overall prevalence of malnutrition and micronutrients alterations in our cohort. We included children newly diagnosed with cancer in a pediatric tertiary hospital in Madrid, Spain from August 2018 to May 2019. The following measurements were performed: SCAN questionnaire, anthropometric measurements, nutritional markers in blood, and micronutrient levels. A total of 49 patients were included. 22 patients (45%) were at risk of malnutrition according to the SCAN questionnaire. Four patients (8%) could be diagnosed with moderate undernutrition. These undernourished patients were distributed homogeneously among at-risk and not at-risk populations identified by the SCAN tool. Several micronutrient deficiencies were identified. We conclude that the SCAN questionnaire is an easy-to-use tool for everyday clinical practice. By not including anthropometric measurements it misses patients considered to be malnourished. Future data might help clarify if it is an effective tool in predicting a higher nutritional risk during the entire treatment course.

[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.] / Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid.

OBJECTIVE: Tandem mass spectrometry (MS/MS) is being used for newborn screening since this laboratory testing technology increases the number of metabolic disorders that can be detected from dried blood-spot specimens. In the Community of Madrid, it was implemented in March 2011 and it includes 13 aminoacidopathies, fatty acid oxidation disorders and organic acidemias. The aim of this study was to describe our experience and evaluate the screening positive cases in a period of 9 years (2011-2019). METHODS: During the period of the study, a total of 592.822 neonates were screened with this expanded program by MS/MS in the Community of Madrid. Amino acids, acylcarnitines, and succinylacetone were quantified in all samples that met the quality criteria. Means, medians, percentiles and standard deviation of the analytes and ratios of interest were calculated. RESULTS: 901 patients (0,15 %) with a positive screening test were referred to clinical evaluation. 230 patients were diagnosed of 30 different inborn errors of metabolism (prevalence 1:2577), 11 of which were not included as a target in the Community of Madrid newborn screening program. The global positive predictive value was 25,6 %. During this period of time, two false negative cases were detected. The most prevalent disorders were phenylketonuria/hyperphenylalaninemia and medium chain acyl-CoA dehydrogenase deficiency (1:6444 and 1:13174 respectively). 93 % of the patients were detected in the presymptomatic stage. CONCLUSIONS: During the last 9 years a large number of cases of IEM have been detected with an acceptable global positive predictive value. These results confirm the utility of inborn errors of metabolism newborn screening as a public health program.

OBJETIVO: La tecnología de espectrometría de masas en tándem (MS/MS) en los programas de cribado neonatal ha permitido la detección de gran número de errores congénitos del metabolismo (ECM). En la comunidad de Madrid se implementó en marzo de 2011 incluyendo 13 aminoacidopatías, defectos de la ß-oxidación de ácidos grasos y acidemias orgánicas. El objetivo de este estudio fue describir nuestra experiencia y analizar los casos positivos de cribado en un periodo de 9 años (2011-2019). METODOS: Durante el periodo de estudio se realizó el cribado mediante MS/MS a 592822 recién nacidos en la Comunidad de Madrid. Se cuantificaron aminoácidos, acilcarnitinas y succinilacetona en todas las muestras que cumplieron los criterios de calidad. Se calcularon medias, medianas, percentiles y desviación típica de los analitos y ratios de interés. RESULTADOS: Se derivaron a las unidades clínicas de seguimiento por sospecha de una ECM un total de 901 (0,15 %) casos. Se confirmaron 230 casos de 30 ECM diferentes (prevalencia 1:2577), 11 de los cuales no eran inicialmente objetivo de detección del programa. El valor predictivo positivo global fue de 25,6 %. Durante este periodo se detectaron dos falsos negativos. Las enfermedades con mayor prevalencia fueron fenilcetonuria/hiperfenilalaninemia y deficiencia de acil-CoA deshidrogenasa de cadena media (1:6444 y 1: 13174 respectivamente). 93 % de los casos fueron detectados en fase presintomática. CONCLUSIONES: En estos 9 años de experiencia se han detectado numerosos casos de ECM con un valor predictivo positivo global aceptable. Estos resultados confirman la utilidad del cribado neonatal de ECM como programa de salud pública.

COVID-19 Gastrointestinal Manifestations Are Independent Predictors of PICU Admission in Hospitalized Pediatric Patients.

Multicenter study conducted in 15 hospitals including 101 COVID-19 pediatric inpatients aiming to describe associated gastrointestinal (GI) manifestations. GI symptoms were present in 57% and were the first manifestation in 14%. Adjusted by confounding factors, those with GI symptoms had higher risk of pediatric intensive care unit admission. GI symptoms are predictive of severity in COVID-19 children admitted to hospitals.

Use of carglumic acid in valproate-induced hyperammonemia: 25 pediatric cases.

Hyperammonemic encephalopathy is a rare but potentially dangerous complication of the antiepileptic drug (AED) sodium valproate (VPA). We report a retrospective study of 25 pediatric patients, (15 females [60%]; age: 7.6 ± 4.9 years), with different underlying disorders, who suffered from hyperammonemia due to VPA and who were treated with carglumic acid (CA). The duration of treatment with VPA was 15 ± 1 month, with a dose of 40 ± 16.6 mg/kg/d. VPA blood levels were 75.5 ± 60 mg/L with seven patients being overdosed (>100 mg/L). Twenty-three patients received concomitant treatment with other AEDs. The initial dose of CA was 100 mg/kg. Subsequently, CA doses of 25 mg/kg were given to 22 patients every 6 hours (average treatment length 2.17 ± 1.1 days) until ammonemia was normalized. In nine patients, CA was used in combination with other drugs to treat hyperammonemia. In all cases, blood ammonia levels were brought under control and symptoms of hyperammonemia resolved. Two hours after CA administration, the average reduction in ammonium levels was 53 ± 29 and 88.6 ± 47.5 µmol/L at 24 hours, resulting in a statistically significant decrease when compared to pretreatment levels. There were no statistically significant differences between sexes, in the presence or not of cognitive impairment or previous carnitine treatment. There were no statistically significant differences when comparing treatment with CA plus ammonia scavengers vs CA alone. In 17 patients (68%) VPA was discontinued and 62% of the patients who maintained treatment had recurrent episodes of hyperammonemia.

Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid / Newborn Screening Program in the Community of Madrid: evaluation of positive cases

OBJETIVO: La tecnología de espectrometría de masas en tándem (MS/MS) en los programas de cribado neonatal ha permitido la detección de gran número de errores congénitos del metabolismo (ECM). En la comunidad de Madrid se implementó en marzo de 2011 incluyendo 13 aminoacidopatías, defectos de la beta-oxidación de ácidos grasos y acidemias orgánicas. El objetivo de este estudio fue describir nuestra experiencia y analizar los casos positivos de cribado en un periodo de 9 años (2011-2019). MÉTODOS: Durante el periodo de estudio se realizó el cribado mediante MS/MS a 592822 recién nacidos en la Comunidad de Madrid. Se cuantificaron aminoácidos, acilcarnitinas y succinilacetona en todas las muestras que cumplieron los criterios de calidad. Se calcularon medias, medianas, percentiles y desviación típica de los analitos y ratios de interés. RESULTADOS: Se derivaron a las unidades clínicas de seguimiento por sospecha de una ECM un total de 901 (0,15 %) casos. Se confirmaron 230 casos de 30 ECM diferentes (prevalencia 1:2577), 11 de los cuales no eran inicialmente objetivo de detección del programa. El valor predictivo positivo global fue de 25,6 %. Durante este periodo se detectaron dos falsos negativos. Las enfermedades con mayor prevalencia fueron fenilcetonuria/hiperfenilalaninemia y deficiencia de acil-CoA deshidrogenasa de cadena media (1:6444 y 1: 13174 respectivamente). 93 % de los casos fueron detectados en fase presintomática. CONCLUSIONES: En estos 9 años de experiencia se han detectado numerosos casos de ECM con un valor predictivo positivo global aceptable. Estos resultados confirman la utilidad del cribado neonatal de ECM como programa de salud pública

OBJECTIVE: Tandem mass spectrometry (MS/MS) is being used for newborn screening since this laboratory testing technology increases the number of metabolic disorders that can be detected from dried blood-spot specimens. In the Community of Madrid, it was implemented in March 2011 and it includes 13 aminoacidopathies, fatty acid oxidation disorders and organic acidemias. The aim of this study was to describe our experience and evaluate the screening positive cases in a period of 9 years (2011-2019). METHODS: During the period of the study, a total of 592.822 neonates were screened with this expanded program by MS/MS in the Community of Madrid. Amino acids, acylcarnitines, and succinylacetone were quantified in all samples that met the quality criteria. Means, medians, percentiles and standard deviation of the analytes and ratios of interest were calculated. RESULTS: 901 patients (0,15 %) with a positive screening test were referred to clinical evaluation. 230 patients were diagnosed of 30 different inborn errors of metabolism (prevalence 1:2577), 11 of which were not included as a target in the Community of Madrid newborn screening program. The global positive predictive value was 25,6 %. During this period of time, two false negative cases were detected. The most prevalent disorders were phenylketonuria/hyperphenylalaninemia and medium chain acyl-CoA dehydrogenase deficiency (1:6444 and 1:13174 respectively). 93 % of the patients were detected in the presymptomatic stage. CONCLUSIONS: During the last 9 years a large number of cases of IEM have been detected with an acceptable global positive predictive value. These results confirm the utility of inborn errors of metabolism newborn screening as a public health program

Presentación clínica y tratamiento de los niños hospitalizados por gripe durante cinco temporadas / Clinical presentation and treatment of children hospitalised due to influenza from the 2012 to the 2016 season

Objetivo: estudiar las características clínicas y demográficas, así como el uso de oseltamivir, de los niños hospitalizados por gripe en un hospital pediátrico terciario. Pacientes y métodos: estudio descriptivo observacional de niños entre 0 y 18 años ingresados en las temporadas de diciembre a mayo de 2012 a 2017 con diagnóstico confirmado microbiológicamente de gripe. Resultados: se han estudiado 166 pacientes. El porcentaje de ingresos sobre el total de ingresados en las mismas fechas osciló entre el 2,03 y el 9,69%. El mayor número de ingresos fueron en la penúltima temporada de estudio (p <0,0001). Los niños diagnosticados de gripe A presentaron una edad menor que los que lo fueron de gripe B (2,45 frente a 3,88 años, p <0,0001), no encontrándose diferencias significativas en cuanto al sexo, los días de estancia media, la necesidad de antibioterapia o de broncodilatadores. Recibieron tratamiento con oseltamivir un total de 96 niños (57,83%), 75 de ellos en la temporada 2015-2016. No se encontraron diferencias en las características de los niños que lo recibieron frente a los que no. La estancia media global fue 0,89 días mayor en aquellos niños que recibieron el antiviral, diferencia casi significativa en el total de la muestra (p = 0,052), durante la temporada 2015-2016 la duración fue 1,8 días mayor (p = 0,039). No se encontraron diferencias significativas en cuanto al porcentaje de pacientes con neumonía ni de los que precisaron ingreso en la Unidad de Cuidados Intensivos Pediátricos entre los tratados respecto a los no tratados. Conclusiones: el porcentaje de niños ingresados por gripe es importante, habiéndose incrementado en la última temporada. Los niños diagnosticados con gripe A tienen una edad significativamente menor que los que presentaron gripe B. En nuestro caso no se encontraron ventajas en el tratamiento con oseltamivir

Objective: to analyse the demographic and clinical characteristics and the use of oseltamivir in children admitted with influenza to a tertiary care children's hospital. Patients and methods: we conducted a descriptive observational study of all patients aged 0 to 18 years admitted in every December-to-May epidemic season between 2012 and 2016 with a microbiological diagnosis of influenza. Results: we reviewed the cases of 166 patients. The percentage of influenza admissions out of the total admissions during the seasons under study between 2.03% and 9.69%. The highest number of admissions occurred in the second to last season under study (p < .0001). Children with infection by influenza A were younger compared to those with influenza B (2.45 vs. 3.88 years, p < .0001), and we found no significant differences between serotypes in the sex distribution, mean length of stay or need for antibiotherapy or bronchodilators. A total of 96 children (57.83%) received oseltamivir, 75 of them in the 2015-2016 season. We found no differences in the characteristics of children treated with oseltamivir compared to those that were not. The mean length of stay was 0.89 days overall and was greater in children treated with the antiviral drug, with p-values that neared the threshold for significance in the entire sample (p = .052); the length of stay was 1.8 days longer in the 2015-2016 season (p = .039). We did not find significant differences between patients that received oseltamivir and patients that did not in the percentage that developed pneumonia or the percentage that required admission to the paediatric intensive care unit. Conclusions: the percentage of children admitted with influenza virus was substantial and increased in the last season. Children with an influenza A diagnosis were younger compared to children with influenza B. Our study did not find advantages in the use of oseltamivir

Embarazo en adolescentes en los últimos 11 años. Motivos de consulta y factores de riesgo / Pregnancy in adolescents in the last 11 years. Reasons for consulting and risk factors

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Embarazo en adolescentes en los últimos 11 años. Motivos de consulta y factores de riesgo. Respuesta de los autores / Response to pregnancy in adolescents in the last 11 years. Reasons for consulting and risk factors. Authors reply

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