Experience With Teduglutide in Pediatric Short Bowel Syndrome: First Real-life Data.

OBJECTIVES: The aim of the study was to describe the experience with teduglutide of several Spanish hospitals in pediatric patients with SBS (SBS). METHODS: Seventeen pediatric patients with intestinal failure associated with SBS were treated with teduglutide. Patients received 0.05 mg ·â€Škg ·â€Šday of subcutaneous teduglutide. Patients' demographics and changes in parenteral nutrition (PN) needs, fecal losses, and citrulline level initially and at 3, 6, and 12 months were collected, as well as any adverse events. RESULTS: Patients were receiving 55 ml ·â€Škg ·â€Šday and 33 kcal ·â€Škg ·â€Šday of parenteral supplementation on average at baseline (2 patients received only hydroelectrolytic solution). A total of 12/17 patients achieved parenteral independence: 3 patients after 3 months of treatment, 4 patients at 6 months, and 5 after 12 months. One patient discontinued treatment 1 year after the beginning as no changes in parenteral support or fecal losses were obtained. All others decreased their intravenous requirements by 50%. One patient suffered an episode of cholecystitis, and another one with a pre-existing cardiac disease, developed a cardiac decompensation. CONCLUSIONS: Teduglutide seems to be a safe and effective treatment in the pediatric SBS population with better results than in the pivotal study as well as in the adult population.

Acute Liver Failure: Outcome and Value of Pediatric End-Stage Liver Disease Score in Pediatric Cases.

PURPOSE: The aims of this study were to analyze the characteristics of patients with acute liver failure (ALF) in our center and evaluate the prognostic value of the Pediatric End-Stage Liver Disease (PELD) score calculated at admission. METHODS: A retrospective analysis of patients with ALF younger than 15 years between 2005 and 2013 was performed. Information collected included age, sex, etiology of ALF, laboratory tests, PELD score, stage of encephalopathy, and need for liver support devices such as MARS and/or liver transplant (LT) and survival. A poor prognosis was defined as the need for LT or death. RESULTS: Twenty patients (10 male patients, 50%) with a median age of 2.6 years (3 days-14.5 y old) were included. Acute liver failure was of indeterminate cause in 5 cases (25%). Within the recognized causes, the most frequent were viral hepatitis (herpes simplex virus, adenovirus, influenza B, Epstein-Barr virus), autoimmune hepatitis, and metabolopathies. Sixty percent presented with encephalopathy at diagnosis. Four patients were aided by a MARS liver support device. Six patients received a total of 7 transplants, all from deceased donors. The rate of spontaneous recovery was 45%. Currently 13 patients (65%) are living, 4 of them with an LT. Six patients died because of ALF. The mean PELD score of patients with spontaneous recovery was 15.31 (5.3-27.6) compared with a mean of 29.5 (17.2-39.4) in LT patients and 31.55 (15.8-52.4) for nonsurvivors (P = 0.013). CONCLUSIONS: High PELD scores at diagnosis were accurate predictors of a poor prognosis in our patients with ALF. This model may help in the clinical management of this entity, although prospective validation is needed.

Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.

Shah-Waardenburg syndrome or Waardenburg syndrome type 4 (WS4) is a neurocristopathy characterized by the association of deafness, depigmentation and Hirschsprung disease. Three disease-causing genes have been identified so far for WS4: EDNRB, EDN3, and SOX10. SOX10 mutations, found in 45-55% of WS4 patients, are inherited in autosomal dominant way. In addition, mutations in SOX10 are also responsible for an extended syndrome involving peripheral and central neurological phenotypes, referred to as PCWH (peripheral demyelinating neuropathy, central dysmyelinating leucodystrophy, Waardenburg syndrome, Hirschsprung disease). Such mutations are mostly private, and a high intra- and inter-familial variability exists. In this report, we present a patient with WS4 and a second with PCWH due to SOX10 mutations supporting again the genetic and phenotypic heterogeneity of these syndromes. Interestingly, the WS4 family carries an insertion of 19 nucleotides in exon 5 of SOX10, which results in distinct phenotypes along three different generations: hypopigmentation in the maternal grandmother, hearing loss in the mother, and WS4 in the proband. Since mosaicism cannot explain the three different related-WS features observed in this family, we propose as the most plausible explanation the existence of additional molecular events, acting in an additive or multiplicative fashion, in genes or regulatory regions unidentified so far. On the other hand, the PCWH case was due to a de novo deletion in exon 5 of the gene. Efforts should be devoted to unravel the mechanisms underlying the intrafamilial phenotypic variability observed in the families affected, and to identify new genes responsible for the still unsolved WS4 cases.

[Taurolidine lock in pediatric patients with intestinal failure. A practical guideline from the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition (SEGHNP)]. / Sellado con taurolidina en el fracaso intestinal pediátrico. Guía práctica de la Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica (SEGHNP).

Introduction: Objectives: the prevention of central line-associated bloodstream infections is a critical aspect of care for patients with intestinal failure who are treated with parenteral nutrition. The use of taurolidine in this context is becoming increasingly popular, however there is a lack of standardization in its pediatric application. The objective of this work is to develop a guide to support its prescription. Methodology: the guide is based on a review of the literature and expert opinions from the Intestinal Failure Group of the SEGHNP. It was developed through a survey distributed to all its members, addressing aspects of usual practice with this lock solution. Results: this manuscript presents general recommendations concerning taurolidine indications, commercial presentations, appropriate forms of administration, use in special situations, adverse reactions, and contraindications in the pediatric population Conclusions: taurolidine is emerging as the primary lock solution used to prevent central line-associated bloodstream infections, proving to be safe and effective. This guide aims to optimize and standardize its use in pediatrics.

Introducción: Objetivo: la prevención de las infecciones asociadas a catéter ocupa un papel fundamental en los cuidados del paciente en situación de fracaso intestinal en tratamiento con nutrición parenteral. El empleo del sellado del catéter con taurolidina con ese fin se ha generalizado sin que exista una estandarización sobre su uso en población pediátrica. El objetivo de este trabajo es elaborar una guía clínica que sirva de apoyo en su utilización. Métodos: la guía se basa en una revisión de la literatura y en la opinión de expertos del Grupo de Trabajo de Fracaso Intestinal de la SEGHNP recogida a través de una encuesta realizada a todos sus integrantes sobre aspectos de la práctica habitual con este sellado. Resultados: este manuscrito expone unas recomendaciones en cuanto a las indicaciones, presentaciones comerciales disponibles, forma adecuada de administración, uso en situaciones especiales, reacciones adversas y contraindicaciones de la taurolidina en población pediátrica. Conclusiones: el sellado con taurolidina para la prevención de la infección asociada a catéter venoso central se ha mostrado como un tratamiento eficaz y seguro. La presente guía pretender optimizar y homogeneizar su uso en pediatría.

Clinical Impact of Supplementation with Pasteurized Donor Human Milk by High-Temperature Short-Time Method versus Holder Method in Extremely Low Birth Weight Infants: A Multicentre Randomized Controlled Trial.

Nosocomial infections are a frequent and serious problem in extremely low birth weight (ELBW) infants. Donor human milk (DHM) is the best alternative for feeding these babies when mother's own milk (MOM) is not available. Recently, a patented prototype of a High-Temperature Short-Time (HTST) pasteurizer adapted to a human milk bank setting showed a lesser impact on immunologic components. We designed a multicentre randomized controlled trial that investigates whether, in ELBW infants with an insufficient MOM supply, the administration of HTST pasteurized DHM reduces the incidence of confirmed catheter-associated sepsis compared to DHM pasteurized with the Holder method. From birth until 34 weeks postmenstrual age, patients included in the study received DHM, as a supplement, pasteurized by the Holder or HTST method. A total of 213 patients were randomized; 79 (HTST group) and 81 (Holder group) were included in the analysis. We found no difference in the frequency of nosocomial sepsis between the patients of the two methods-41.8% (33/79) of HTST group patients versus 45.7% (37/81) of Holder group patients, relative risk 0.91 (0.64-1.3), p = 0.62. In conclusion, when MOM is not available, supplementing during admission with DHM pasteurized by the HTST versus Holder method might not have an impact on the incidence of catheter-associated sepsis.

[Early diagnosis of congenital cytomegalovirus infection: lost opportunities]. / Diagnóstico precoz de la infección congénita por citomegalovirus: oportunidades perdidas.

INTRODUCTION: Cytomegalovirus (CMV) infection is the most common congenital infection in Europe. Symptoms are present at birth in 10% of infected children, and up to 30-40% have some degree of hearing loss after the newborn period. METHODS: A retrospective study was performed over a period of 4 years and included all patients with congenital CMV infection diagnosed after the neonatal period using the dried blood spots from neonatal metabolic screening. RESULTS: We present 5 patients diagnosed with congenital CMV infection outside the neonatal period. The main reasons for consultation were hearing loss and/or neurological impairment in the first few months of life. DISCUSSION: Congenital CMV infection may be mildly symptomatic at birth, and present as hearing loss and/or neurological impairment in infancy. Therefore, a high degree of suspicion is necessary in order to make an accurate diagnosis and start specific treatment to improve the outcome.

Which is the best route to achieve nutritional goals in pediatric ECMO patients?

OBJECTIVES: Estimating caloric intake and choosing route of administration are fundamental in the nutritional support of patients being supported by extracorporeal membrane oxygenation (ECMO). The aim of this study was to review the nutritional intervention carried out in a pediatric cohort in a third-level hospital. METHODS: This was a prospective descriptive study. Age, sex, underlying pathology, Pediatric Risk of Mortality score, ECMO indication, type of care, duration of ECMO support, and prognosis were collected. Type of nutritional support, route of administration, kcal/kg achieved, estimated energy requirements, and percentage of caloric objective (%CO) reached on days 3 and 5 after cannulation were recorded. RESULTS: Twenty-four venoarterial ECMO runs in 23 patients over a period of 2 y were recorded. Of the 23 patients, 15 were <1 y of age. The underlying pathology in 56.5% was cardiac disease. Three groups were identified: parenteral nutrition (group 0, n = 7), enteral nutrition (group 1, n = 8), and mixed nutrition (group 2, n = 7). The median of the %CO was 33.34 (0-84) on day 3 and 87.75% (78.4-100) on day 5 of ECMO, respectively for group 0; 75.5 (42.25-98.5) and 85% (24.4-107.7) in group 1 and 68.7 (44.4-82.2) and 91.2% (35.5-92) in group 2 (P > 0.05). Children <12 mo of age and cardiac patients represented 85.71% and 71.43% of total patients in group 0. Among the eight episodes of exclusive enteral nutrition, no complications were identified. CONCLUSION: Enteral nutrition appears to be safe in the setting of hemodynamic stability and absence of contraindications and is equivalent to other nutritional interventions in terms of compliance with estimated energy requirements.

A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics.

Objectives Hirschsprung disease (HSCR) has a wide range of severity. There are nonsevere forms treated conservatively until surgery and severe forms that require an early stoma and prolonged hospitalization. Our objective was to establish a clinical scoring system to predict the severity of HSCR and to evaluate the possible existence of a clinical-genetic correlation. Methods We carried out a retrospective observational study including all HSCR cases treated in our hospital. The sample was divided into severe and nonsevere disease according to the number of surgical procedures, hospitalization time, and episodes of enterocolitis. The proposed score was applied at diagnosis, and the sensitivity, specificity, and optimal cut-point were determined. We conducted a prospective molecular study of RET, EDNRB, and EDN3 on all patients, as well as SOX10 in Waardenburg Syndrome type 4 forms. Results Among the 42 patients treated between 1983 and 2013, 15 met the severe disease criteria. This group had a higher mean score (13.15 ± 2.36) than the nonsevere group (8.15 ± 2.13; p < 0.001). A score ≥11 had a sensitivity of 87% and a specificity of 81% in detecting the severe cases. Causative mutations were identified in 12 patients, 8 of them in the severe group ( p = 0.015). Most of these mutations (75%) were located in the RET proto-oncogene. Conclusion The proposed scoring system enables the early selection of patients with severe behavior of HSCR. A value ≥11 showed good sensitivity and specificity for this purpose. Causative mutations were identified in more than 50% of patients who met the criteria for severe disease.

Estenosis esofágica congénita. La sospecha diagnóstica se inicia desde Atención Primaria / Esophageal congenital stenosis. The diagnostic suspect is started from Primary Care

La estenosis esofágica congénita es una malformación rara que ocurre debido a la separación incompleta del esófago y del sistema respiratorio. Generalmente cursa con vómitos persistentes que suelen debutar o exacerbarse con la introducción de la alimentación complementaria y con ello de los alimentos sólidos. Dados los síntomas de presentación, la sospecha diagnóstica se puede realizar desde las consultas de Pediatría de Atención Primaria. El diagnóstico se realiza mediante una endoscopia digestiva alta que mostrará normalidad de la mucosa y un tránsito digestivo. Existe controversia en cuanto al tratamiento de elección, prefiriéndose el tratamiento conservador mediante dilataciones endoscópicas de inicio

Esophageal congenital stenosis is an unusual type of malformation that occurs due to incomplete division of the esophagus and respiratory system. Generally, it shows up with persistent vomiting that tends to debut or exacerbate with the introduction of complementary feeding and solid foods. A high degree of suspicion is necessary for diagnosis from Primary Care pediatricians. A high digestive endoscopy with normal mucosa and a digestive transit confirm the diagnosis. There is controversy regarding the treatment of choice, conservative treatment is preferred by initial endoscopic dilations

¿La patata es culpable? / Is the potato guilty?

El síndrome de enterocolitis inducida por proteínas alimentarias (FPIES o food protein-induced enterocolytis syndrome) es una patología alérgica no mediada por IgE inducida por proteínas alimentarias. Cursa con vómitos de repetición asociados a diarrea, palidez, letargia o hipotensión 1-4 horas tras la ingesta del alimento desencadenante. Los desencadenantes más habituales son la leche de vaca y la soja; sin embargo, también se han descrito asociada a alimentos sólidos, como la patata

Food protein-induced enterocolitis syndrome (FPIES) is a non IgE mediated allergic disorder induced by food protein that presents in young infants. It is characterized by persistent vomiting associated to diarrhea, lethargy, pallor or hypotension presenting 1-4 hours after the ingestion of the triggering food. The most frequent triggers are cows's milk and soy, but solid foods have also been described as triggers, including potato

Síndrome de vaciado gástrico rápido en un adolescente no gastrectomizado: revisión a propósito de un caso / Rapid gastric emptying syndrome in a non-gastrectomized adolescent: a case report

El síndrome de dumping o síndrome de vaciado gástrico rápido se define como el conjunto de manifestaciones digestivas y sistémicas que surgen como resultado de un vaciamiento rápido de gran cantidad de líquidos, alimentos osmóticamente activos y sólidos. Puede ser precoz o tardío. Su etiología es multifactorial. La mayoría de los casos aparecen como secuela de una cirugía gástrica (vagotomía y piloroplastia, gastroyeyunostomía, funduplicatura de Nissen), aunque se han descrito formas idiopáticas, y casos que aparecen en un contexto de disfunción autonómica generalizada. Se presenta un caso clínico de un adolescente sano con un síndrome de dumping precoz, de evolución favorable tras un tratamiento dietético correcto

Dumping syndrome or rapid gastric emptying syndrome is defined as the set of digestive and systemic manifestations that arise as a result of a rapid emptying of large amounts of liquids, osmotically active and solid foods. It can be early or late. Its etiology is multifactorial. Most cases appear as a sequel to gastric surgery (vagotomy and pyloroplasty, gastrojejunostomy, Nissen fundoplication), although idiopathic forms have been described, and cases that appear in a context of generalized autonomic dysfunction. We present a clinical case of a healthy adolescent with an early dumping syndrome, proper evolution after correct dietary measures

Litiasis biliar complicada tratada satisfactoriamente mediante colangiografía percutánea y drenaje biliar en lactante de 2 meses / Complicated bile duct stones successfully treated by percutaneous cholangiography and biliary drainage catheter in a 2-month-old infant

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Diagnóstico precoz de la infección congénita por citomegalovirus: oportunidades perdidas / Early diagnosis of congenital cytomegalovirus infection: lost opportunities

Introducción: La infección por citomegalovirus (CMV) es la infección congénita más frecuente en Europa. El 10% de los niños infectados presentan síntomas al nacimiento, y hasta el 30-40% tienen algún grado de hipoacusia. Métodos Se ha realizado un estudio descriptivo retrospectivo incluyendo todos los pacientes diagnosticados de infección congénita por CMV fuera del período neonatal a lo largo de 4 años a partir de las muestras de sangre del talón en papel de filtro del cribado metabólico neonatal. Resultados Presentamos 5 pacientes diagnosticados de infección congénita por CMV fuera del periodo neonatal. Los principales motivos de consulta fueron la hipoacusia y/o el retraso psicomotor en los primeros meses de vida. Conclusión La infección por CMV puede ser poco sintomática al nacimiento y presentarse como un déficit auditivo y/o retraso psicomotor en la infancia. Es preciso un alto grado de sospecha para establecer un diagnóstico temprano que permita ofrecer tratamiento específico y mejorar el pronóstico a largo plazo (AU)

Introduction: Cytomegalovirus (CMV) infection is the most common congenital infection in Europe. Symptoms are present at birth in 10% of infected children, and up to 30-40% have some degree of hearing loss after the newborn period. Methods: A retrospective study was performed over a period of 4 years and included all patients with congenital CMV infection diagnosed after the neonatal period using the dried blood spots from neonatalmetabolic screening. Results: We present 5 patients diagnosed with congenital CMV infection outside the neonatal period. The main reasons for consultation were hearing loss and/or neurological impairment in the first few months of life. Discussion: Congenital CMV infection may be mildly symptomatic at birth, and present as hearing loss and/or neurological impairment in infancy. Therefore, a high degree of suspicion is necessary in order to make an accurate diagnosis and start specific treatment to improve the outcome (AU)