Estudio multicéntrico de ingesta de imanes en los servicios de urgencias pediátricos españoles / Multicentre study of magnet ingestion in Spanish paediatric emergency departments

Introducción: Las ingestas de objetos imantados pueden presentar complicaciones en el niño, no existiendo datos epidemiológicos ni clínicos en España. Objetivos: Conocer la incidencia de ingesta de objetos imantados en los servicios de urgencias pediátricos españoles, sus características epidemiológicas y su manejo. Material y métodos: Estudio observacional prospectivo multicéntrico realizado durante 3 años. Población de referencia menores de 14 años. Resultados: La incidencia fue de 4,8/100.000 urgencias. De los 72 pacientes incluidos (edad media de 7,2 años), el 54% fueron varones. El 7% presentaron antecedentes neuropsiquiátricos. El 61% de los imanes fueron esféricos y el 69% procedían de juguetes. El tamaño fue variable con un predominio de los imanes entre 5 y 10mm (50%). El 86% fueron asintomáticos. El síntoma más frecuente fue el dolor abdominal. El 83% de los pacientes consultaron en menos de 6h y el 92% en las primeras 24h. El 31% fueron ingestas múltiples. El 15% precisó intervención endoscópica, cifra que ascendió al 36% en los casos de ingestas múltiples. No se realizó ninguna intervención quirúrgica. No se observó ninguna complicación gastrointestinal secundaria. Conclusiones: Las ingestas de imanes múltiples son menos frecuentes que las simples y en este estudio no se han observado complicaciones a pesar de que las intervenciones realizadas han sido menores que en otros estudios. (AU)

Introduction: The ingestion of magnetic objects can cause complications in children, and there are no epidemiological or clinical data on the subject in Spain. Objectives: To determine the incidence, epidemiological characteristics and management of magnet ingestion in paediatric emergency departments in Spain. Material and methods: Prospective observational multicentre study conducted over a 3-year period. The study universe consisted of patients aged less than 14 years. Results: The incidence was 4.8 cases per 100 000 emergency care episodes. Of the 72 patients included (mean age, 7.2 years), 54% were male. Seven percent had neuropsychiatric disorders. Sixty-one percent of the magnets were spherical and 69% came from toys. The size was variable, most frequently between 5 and 10mm (50%), and ranging from 3 to 30mm. Eighty-six percent of patients were asymptomatic. The most frequent symptom was abdominal pain. Eighty-three percent of the patients sought medical care within 6h of ingestion and 92% within 24h. Thirty-one percent of the cases were of multiple ingestion. Endoscopy was required for extraction in 15% of cases, a proportion that rose to 36% in the group of cases of multiple ingestion. None of the patients required surgery. We did not observe any gastrointestinal complications of magnet ingestion. Conclusions: The ingestion of multiple magnets is less frequent than single magnet ingestion, and we did not observe any complications despite the lower frequency of procedures compared to other studies. (AU)

Multicentre study of magnet ingestion in Spanish paediatric emergency departments.

INTRODUCTION: The ingestion of magnetic objects can cause complications in children, and there are no epidemiological or clinical data on the subject in Spain. OBJECTIVES: To determine the incidence, epidemiological characteristics and management of magnet ingestion in paediatric emergency departments in Spain. MATERIAL AND METHODS: Prospective observational multicentre study conducted over a 3-year period. The study universe consisted of patients aged less than 14 years. RESULTS: The incidence was 4.8 cases per 100 000 emergency care episodes. Of the 72 patients included (mean age, 7.2 years), 54% were male. Seven percent had neuropsychiatric disorders. Sixty-one percent of the magnets were spherical and 69% came from toys. The size was variable, most frequently between 5 and 10 mm (50%), and ranging from 3 to 30 mm. Eighty-six percent of patients were asymptomatic. The most frequent symptom was abdominal pain. Eighty-three percent of the patients sought medical care within 6 h of ingestion and 92% within 24 h. Thirty-one percent of the cases were of multiple ingestion. Endoscopy was required for extraction in 15% of cases, a proportion that rose to 36% in the group of cases of multiple ingestion. None of the patients required surgery. We did not observe any gastrointestinal complications of magnet ingestion. CONCLUSIONS: The ingestion of multiple magnets is less frequent than single magnet ingestion, and we did not observe any complications despite the lower frequency of procedures compared to other studies.

Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.

Pathogenic RIPK1 variants have been described as the cause of two different inborn errors of immunity. Biallelic loss-of-function variants cause the recessively inherited RIPK1 deficiency, while monoallelic variants impairing the caspase-8-mediated RIPK1 cleavage provoke a novel autoinflammatory disease (AID) called cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome. The aim of this study was to characterize the pathogenicity of two novel RIPK1 variants located at the cleavage site of caspase-8 detected in patients with dominantly-inherited, early-onset undefined AID. RIPK1 genotyping was performed by Sanger and next-generation sequencing. Clinical and analytical data were collected from medical charts, and in silico and in vitro assays were performed to evaluate the functional consequences. Genetic analyses identified two novel heterozygous RIPK1 variants at the caspase-8 cleavage site (p.Leu321Arg and p.Asp324Gly), which displayed a perfect intrafamilial phenotype-genotype segregation following a dominant inheritance pattern. Structural analyses suggested that these variants disrupt the normal RIPK1 structure, probably making it less accessible to and/or less cleavable by caspase-8. In vitro experiments confirmed that the p.Leu321Arg and p.Asp324Gly RIPK1 variants were resistant to caspase-8-mediated cleavage and induced a constitutive activation of necroptotic pathway in a similar manner that previously characterized RIPK1 variants causing CRIA syndrome. All these results strongly supported the pathogenicity of the two novel RIPK1 variants and the diagnosis of CRIA syndrome in all enrolled patients. Moreover, the evidences here collected expand the phenotypic and genetic diversity of this recently described AID, and provide interesting data about effectiveness of treatments that may benefit future patients.

Appendicular enterobiasis / Enterobiasis apendicular

Introducción. La presencia de parásitos en el apéndice puede desencadenar, de forma excepcional, un cuadro de apendicitis aguda.El dolor es secundario a los cólicos apendiculares, sin que implique necesariamente una invasión o inflamación apendicular.Caso clínico. Presentamos el caso de una adolescente de 13 añosque consulta en urgencias por cuadro de 4 días de evolución dedolor abdominal en fosa ilíaca derecha con vómitos y anorexia. Seorienta como apendicitis aguda. La ecografía no permite visualizarel apéndice y se realiza una tomografía computarizada que muestra signos de apendicitis aguda incipiente. Se decide practicarapendicectomía, observándose en la luz apendicular estructurasparasitarias compatibles con enterobiasis. Se realiza tratamientoantihelmíntico con mebendazol, tanto para la paciente como paralos convivientes.Comentarios. La infestación por Enterobius vermicularis puedeafectar al apéndice, causando un síndrome apendicular, por lo quela enterobiasis debe incluirse en el diagnóstico diferencial del dolor abdominal agudo. Para resolver el proceso, además de la apendicectomía, si existen signos de inflamación apendicular, es necesario realizar un tratamiento antihelmíntico con mebendazol. (AU)

Introduction. Parasitic infestation is a very uncommon cause ofacute appendicitis. Helminths can cause appendicular colic due toobstruction without involving invasion or inflammation of the mucous membrane.Case report. We present the case of a 13-year-old girl attended inthe emergency room due to a 4-day history of acute abdominalpain in the right iliac fossa with emesis and anorexia. As ultrasound examination did not visualize the appendix, a computedtomography scan was performed, showing signs of incipient acuteappendicitis. During the appendectomy, parasitic structures compatible with enterobiasis in the appendicular lumen were observed. Anthelmintic treatment with mebendazole was administeredto both the patient and the parents.Comments. Enterobius vermicularis infestation of the appendix cancause appendicular syndrome. Enterobiasis should be included inthe differential diagnosis of abdominal pain. Antihelminthictreatment with mebendazole is required to resolve the process together with appendectomy if there are signs of appendicular inflammation. (AU)

Introducció. La presència de paràsits a l’interior de l’apèndix pot desencadenar, de manera excepcional, un quadre d’apendicitis aguda. El dolor és secundari a còlics apendiculars, sense implicar necessàriament invasió o inflamació de l’apèndix. Cas clínic. Presentem el cas d’una adolescent de 13 anys que consulta a urgències per quadre de 4 dies d’evolució de dolor abdominal a la fossa ilíaca dreta amb vòmits i anorèxia. Inicialment s’orienta com a apendicitis aguda. L’ecografia abdominal no permet visualitzar l’apèndix i per tomografia computada s’observen signes d’apendicitis aguda incipient. Es procedeix a apendicectomia, i a la llum apendicular s’observen estructures parasitàries compatibles amb Enterobius vermicularis. S’inicia tractament antihelmíntic amb mebendazole, tant per a la pacient com per als convivents. Comentaris. L’enterobiasi s’ha d’incloure en el diagnòstic diferencial de dolor abdominal agut, perquè la infestació per Enterobius vermicularis afecta l’apèndix pot causar síndrome apendicular. Per tal de resoldre el procés, cal fer un tractament antihelmíntic amb mebendazole, juntament amb apendicectomia si hi ha signes d’inflamació apendicular. (AU)

Assessment of proadrenomedullin as diagnostic or prognostic biomarker of acute appendicitis in children with acute abdominal pain.

BACKGROUND: Acute appendicitis (AA) is one of the most frequent surgical pathologies in pediatrics. OBJECTIVES: To investigate the utility of proadrenomedullin (pro-ADM) for the diagnosis of AA. METHODS: Prospective, analytical, observational, and multicenter study conducted in 6 pediatric emergency departments. Children up to 18 years of age with suspected AA were included. Clinical, epidemiological, and analytical data were collected. RESULTS: We studied 285 children with an average age of 9.5 years (95% confidence interval [CI], 9.1-9.9). AA was diagnosed in 103 children (36.1%), with complications in 10 of them (9.7%). The mean concentration of pro-ADM (nmol/L) was higher in children with AA (0.51 nmol/L, SD 0.16) than in children with acute abdominal pain (AAP) of another etiology (0.44 nmol/L, SD 0.14; p < 0.001). This difference was greater in complicated cases compared with uncomplicated AA (0.64 nmol/L, SD 0.17 and 0.50 nmol/L, SD 0.15, respectively; p = 0.005). The areas under the receiver-operating characteristic curves were 0.66 (95% CI, 0.59-0.72) for pro-ADM, 0.70 (95% CI, 0.63-0.76) for C-reactive protein (CRP), 0.84 (95% CI, 0.79-0.89) for neutrophils, and 0.84 (95% CI, 0.79-0.89) for total leukocytes. The most reliable combination to rule out AA was CRP ≤1.25 mg/dL and pro-ADM ≤0.35 nmol/L with a sensitivity of 96% and a negative predictive value of 93%. CONCLUSION: Children with AA presented higher pro-ADM values than children with AAP of other etiologies, especially in cases of complicated AA. The combination of low values of pro-ADM and CRP can help to select children with low risk of AA.