RESUMEN
BACKGROUND & AIMS: The incidence of tube feeding dependency seems to increase worldwide, and these children may remain on prolonged tube feeding for many months to years. The multidisciplinary clinical hunger provocation (CHP) program is an intensive inpatient intervention of usually 2-3 weeks, aimed at weaning children from tube feeding. CHP has been proven highly effective on the short term (80-86%), particularly when applied before the age of two years but long-term data are lacking. The aims of our study were to determine the long-term efficacy of the CHP program and factors associated with success or failure and to assess anthropometrics, feeding behavior, and medical outcomes at long-term follow-up. METHODS: All tube-dependent children who underwent CHP at a tertiary hospital in Amsterdam, the Netherlands, between 2001 and 2014, and had a minimum follow-up of 12-months in 2015, were eligible to participate in this retrospective cohort study. During the CHP program, tube feeding is ceased stepwise to create appetite, according to a strict protocol. The program was defined successful if patients achieved oral intake and could be fully weaned from tube feeding following the CHP program. Acute malnourishment was defined as weight for height <2 SD or loss of >1 SD within 3 months, chronic malnourishment as height for age <2 SD and both acute and chronic malnourishment as both a height for age and weight for height <2 SD. Long-term efficacy (tube free at varying follow-up periods), anthropometrics (height for age, weight for height), feeding behavior and medical outcomes were assessed by a structured cross-sectional parental interview. RESULTS: In total, 57 patients were admitted to the CHP program. Fifty-two patients could be contacted of whom 42 participated in the study (response rate 81%) with a median age at admittance of 19 (IQR 13-22) months (62% female). The program was initially successful in 36/42 (86% (Bca CI 95% 75.0-95.2)) patients. A younger age upon initiation of tube feeding was negatively correlated with success (p 0.016). At follow-up, a median period of 67.0 (IQR 37.0-101.5) months after discharge, long-term efficacy was 32/41 (78% (Bca CI 95% 64.1-90.0)) (1 missing data). Patients with a successful CHP had beneficial outcomes compared to those with an unsuccessful CHP, showing less selective eating behavior (p 0.025), nocturnal feeding (p 0.044), forced feeding (p 0.044) and hospital admissions (p 0.028). However, 44% of successfully weaned patients fulfilled the criteria for malnourishment at long-term follow-up (13% acute, 22% chronic, and 9% both acute and chronic (compared to 22% at admittance: 13% acute, 6% chronic, and 3% both)). 59.4% of successfully weaned patients showed signs of developmental delays or were diagnosed with new medical diagnoses (43.8%) at long-term follow-up. CONCLUSIONS: The multidisciplinary CHP is a highly effective short-term (86%) and long-term (78%) intervention to wean young children from tube feeding, with beneficial feeding outcomes. However, at long-term follow-up, many successfully weaned patients were malnourished, showed signs of developmental delay, and were diagnosed with new medical diagnoses. For these reasons, patients should be monitored carefully during and after tube weaning, also after successful CHP. Tube dependency might be an early expression of medical diagnoses.
Asunto(s)
Nutrición Enteral/métodos , Hambre/fisiología , Trastorno de la Ingesta Alimentaria Evitativa/Restrictiva , Estatura , Peso Corporal , Conducta Alimentaria , Trastornos de Alimentación y de la Ingestión de Alimentos/terapia , Femenino , Humanos , Lactante , Trastornos de la Nutrición del Lactante/terapia , Fenómenos Fisiológicos Nutricionales del Lactante , Recién Nacido , Intubación Gastrointestinal , Masculino , Países Bajos/epidemiología , Factores de Tiempo , Resultado del Tratamiento , DesteteRESUMEN
Vitamin B12 deficiency is traditionally treated with intramuscular injections of cobalamin, which are stressful events for children. In adults, studies have shown adequate absorption of intranasally administered vitamin B12. To date, data concerning efficacy of intranasal administration of vitamin B12 in children are lacking. We report on ten cases of children with vitamin B12 deficiency who were successfully treated with intranasal administration of a spray containing hydroxocobalamin. The mean baseline vitamin B12 concentration increased from 126.3 pmol/l (SD 55.4) to 1914.7 pmol/l (SD 1509.7). No side effects were reported.Conclusion: In children, intranasal application of vitamin B12 seems a safe and effective alternative to intramuscular injections, leading to higher compliance and less burden to patients.What is Known:⢠Children with vitamin B12deficiency are traditionally treated with intramuscular cobalamin injections, which are costly and painful.⢠Studies in adults showed that intranasal application of hydroxocobalamin leads to normalisation of vitamin B12levels.What is New:⢠The intranasal application of vitamin B12resulted in a substantial increase of the mean baseline vitamin B12levels without any side effect.⢠These data encourage a systematic evaluation of intranasal treatment of vitamin B12deficiency in order to define safety, optimal dosage and administration frequency.
Asunto(s)
Cooperación del Paciente/estadística & datos numéricos , Deficiencia de Vitamina B 12/diagnóstico , Deficiencia de Vitamina B 12/tratamiento farmacológico , Vitamina B 12/administración & dosificación , Centros Médicos Académicos , Administración Intranasal , Adolescente , Niño , Preescolar , Estudios de Cohortes , Bases de Datos Factuales , Femenino , Humanos , Inyecciones Intramusculares , Masculino , Cumplimiento de la Medicación , Países Bajos , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
BACKGROUND: In every neonate presenting with prolonged jaundice persisting beyond day 21 of life, neonatal cholestasis should always be excluded even if the infant is breast fed. Pale stools are an alarm symptom and additional tests for neonatal cholestasis should be carried out directly. CASE DESCRIPTION: We describe the case of a five-week-old girl of Chilean origin who was referred with conjugated hyperbilirubinaemia. The jaundice had possibly arisen directly after birth, but due to the dark skin colour of the neonate the jaundice was not recognized as such, although her scleras were yellow. According to the stool colour card, her stools were pale. The findings of a histological examination of a liver biopsy confirmed the diagnosis of biliary atresia, for which a Kasai hepatoportoenterostomy was performed. CONCLUSION: Neonatal cholestasis is always pathological and requires further investigation. In infants with dark skin, jaundice is sometimes difficult to see and inspection of the scleras should give the definitive answer.
Asunto(s)
Atresia Biliar/diagnóstico , Ictericia Neonatal/diagnóstico , Atresia Biliar/complicaciones , Biopsia , Lactancia Materna , Heces , Femenino , Humanos , Recién Nacido , Ictericia Neonatal/complicacionesRESUMEN
PURPOSE: To compare the outcome of initially nonoperative treatment with immediate appendectomy for simple appendicitis in children. METHODS: Between September 2012 and June 2014 children aged 7-17 years with a radiologically confirmed simple appendicitis were invited to participate in a multicentre prospective cohort study in which they were treated with an initially nonoperative treatment strategy; nonparticipants underwent immediate appendectomy. In October 2015, their rates of complications and subsequent appendectomies, and health-related quality of life (HRQOL) were assessed. RESULTS: In this period, 25 children were treated with an initially nonoperative treatment strategy and 19 with immediate appendectomy; median (range) follow-up was 25 (16-36) and 26 (17-34) months, respectively. The percentage [95%CI] of patients experiencing complications in the initially nonoperative group and the immediate appendectomy group was 12 [4-30]% and 11 [3-31]%, respectively. In total 6/25 children (24%) underwent an appendectomy; none of the 6 patients operated subsequently experienced any postappendectomy complications. Overall, HRQOL in the nonoperative treatment group was similar to that of healthy peers. CONCLUSIONS: Outcome of initially nonoperative treatment for acute simple appendicitis in children is similar to the outcome in those who undergo immediate appendectomy. Initially nonoperative management seems to be able to avoid appendectomy in 3 out of 4 children. LEVEL OF EVIDENCE: 2 (prospective comparative study). This research did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors.
Asunto(s)
Apendicitis/terapia , Calidad de Vida/psicología , Adolescente , Antibacterianos/uso terapéutico , Apendicectomía/estadística & datos numéricos , Apendicitis/cirugía , Niño , Preescolar , Femenino , Humanos , Masculino , Evaluación de Resultado en la Atención de Salud , Estudios Prospectivos , Resultado del TratamientoRESUMEN
OBJECTIVES: Disruption of the intestinal microbiota is considered an etiological factor in pediatric functional constipation. Scientifically based selection of potential beneficial probiotic strains in functional constipation therapy is not feasible due to insufficient knowledge of microbiota composition in affected subjects. The aim of this study was to describe microbial composition and diversity in children with functional constipation, compared to healthy controls. STUDY DESIGN: Fecal samples from 76 children diagnosed with functional constipation according to the Rome III criteria (median age 8.0 years; range 4.2-17.8) were analyzed by IS-pro, a PCR-based microbiota profiling method. Outcome was compared with intestinal microbiota profiles of 61 healthy children (median 8.6 years; range 4.1-17.9). Microbiota dissimilarity was depicted by principal coordinate analysis (PCoA), diversity was calculated by Shannon diversity index. To determine the most discriminative species, cross validated logistic ridge regression was performed. RESULTS: Applying total microbiota profiles (all phyla together) or per phylum analysis, no disease-specific separation was observed by PCoA and by calculation of diversity indices. By ridge regression, however, functional constipation and controls could be discriminated with 82% accuracy. Most discriminative species were Bacteroides fragilis, Bacteroides ovatus, Bifidobacterium longum, Parabacteroides species (increased in functional constipation) and Alistipes finegoldii (decreased in functional constipation). CONCLUSIONS: None of the commonly used unsupervised statistical methods allowed for microbiota-based discrimination of children with functional constipation and controls. By ridge regression, however, both groups could be discriminated with 82% accuracy. Optimization of microbiota-based interventions in constipated children warrants further characterization of microbial signatures linked to clinical subgroups of functional constipation.
Asunto(s)
Estreñimiento/microbiología , Microbioma Gastrointestinal , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Enfermedad Crónica , Estreñimiento/fisiopatología , Femenino , Humanos , MasculinoRESUMEN
BACKGROUND: It appears that two forms of appendicitis exist. Preoperative distinction between the two is essential to optimize treatment outcome. This study aimed to develop a scoring system to accurately determine the severity of appendicitis in children. MATERIALS AND METHODS: Historical cohort study of pediatric patients (aged 0-17 y old) with appendicitis treated between January 2010 and December 2012. Division into simple, complex appendicitis, or another condition based on preset criteria. Multiple logistic regression analysis was used to build the prediction model with subsequent validation. RESULTS: There were 64 patients with simple and 66 with complex appendicitis. Five variables explained 64% of the variation. Independent validation of the derived prediction model in a second cohort (55 simple and 10 complex appendicitis patients) demonstrated 90% sensitivity (54-99), 91% specificity (79-97), a positive predictive value of 64% (36-86), and an negative predictive value of 98% (88-100). The likelihood ratio+ was 10 (4.19-23.42), and likelihood ratio- was 0.11 (0.02-0.71). Diagnostic accuracy was 91% (84-98). CONCLUSIONS: Our scoring system consisting of five variables can be used to exclude complex appendicitis in clinical practice if the score is <4.
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Apendicitis/diagnóstico , Toma de Decisiones Clínicas/métodos , Técnicas de Apoyo para la Decisión , Índice de Severidad de la Enfermedad , Adolescente , Apendicectomía , Apendicitis/complicaciones , Apendicitis/cirugía , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Modelos Logísticos , Masculino , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: Children with congenital malformations, mental retardation, and complex early medical history frequently have feeding problems. Although tube feeding is effective in providing the necessary energy and nutrients, it decreases the child's motivation to eat and may lead to oral aversion. In this study, we sought to confirm our previous results, showing that a multidisciplinary clinical hunger provocation program may lead to quick resumption of oral feeding. METHODS: In a crossover study, 22 children of 9 to 24 months of age who were fully dependent on tube feeding were randomly assigned to one of two groups: group A, intervention group (2-week multidisciplinary clinical hunger provocation program); and group B, control group (4-week outpatient treatment by the same multidisciplinary team). Patients failing one treatment were reassigned to the other treatment group. Primary outcome measures were at least 75% orally fed at the conclusion of the intervention and fully orally fed and gaining weight 6 months after the intervention. RESULTS: In group A, 9/11 patients were successfully weaned from tube feeding (2 failures: 1 developed ulcerative colitis, 1 drop-out). In group B, only 1 patient was weaned successfully; 10/11 were reassigned to the clinical hunger provocation program, all being weaned successfully. Six months after the intervention, 1 patient had to resume tube feeding. In total, in the control group, 1/11 (9%) was weaned successfully as compared with 18/21 (86%) in the hunger provocation group (Pâ<â0.001). CONCLUSIONS: Multidisciplinary clinical hunger provocation is an effective short-term intervention for weaning young children from tube feeding.
Asunto(s)
Ingestión de Alimentos , Nutrición Enteral/efectos adversos , Conducta Alimentaria , Trastornos de Alimentación y de la Ingestión de Alimentos/prevención & control , Hambre , Destete , Preescolar , Estudios Cruzados , Trastornos de Alimentación y de la Ingestión de Alimentos/etiología , Femenino , Humanos , Lactante , Masculino , Evaluación de Resultado en la Atención de SaludRESUMEN
BACKGROUND: Initial antibiotic treatment for acute appendicitis has been shown to be safe in adults; so far, not much is known about the safety and efficacy of this treatment in children. The aims of this study were to investigate the feasibility of a randomized controlled trial (RCT) evaluating initial antibiotic treatment for acute appendectomy in children with acute simple appendicitis and to evaluate the safety of this approach. METHODS: In a multicenter, prospective cohort study patients aged 7-17 years with a radiologically confirmed simple appendicitis were eligible. Intravenous antibiotics (amoxicillin/clavulanic acid 250/25 mg/kg 4 times daily; maximum 6,000/600 mg/d and gentamicin 7 mg/kg once daily) were administered for 48-72 hours. Clinical reevaluation every 6 hours, daily blood samples, and ultrasound follow-up after 48 hours was performed. In case of improvement after 48 hours, oral antibiotics were given for a total of 7 days. At any time, in case of clinical deterioration or non-improvement after 72 hours, an appendectomy could be performed. Follow-up continued until 8 weeks after discharge. Adverse events were defined as major complications of antibiotic treatment, such as allergic reactions, perforated appendicitis, and recurrent appendicitis. RESULTS: Of 44 eligible patients, 25 participated (inclusion rate, 57%; 95% CI, 42%-70%). Delayed appendectomy was performed in 2, and the other 23 were without symptoms at the 8 weeks follow-up. Minor complications occurred in three patients. None of the patients suffered from an adverse event or a recurrent appendicitis. CONCLUSION: Our study shows that an RCT comparing initial antibiotic treatment strategy with urgent appendectomy is feasible in children; the intervention seems to be safe.
Asunto(s)
Combinación Amoxicilina-Clavulanato de Potasio/uso terapéutico , Apendicitis/tratamiento farmacológico , Gentamicinas/uso terapéutico , Inhibidores de beta-Lactamasas/uso terapéutico , Adolescente , Apendicectomía , Apendicitis/cirugía , Niño , Femenino , Humanos , Masculino , Proyectos Piloto , Estudios ProspectivosRESUMEN
INTRODUCTION: Data regarding prevalence and natural history of infant dyschezia, defined by the Rome III criteria as straining and crying for at least 10â min before successful passage of soft stools, are lacking. OBJECTIVE: We aimed to investigate prevalence and natural history of infant dyschezia. STUDY DESIGN: In 2003, 124 youth healthcare doctors participated in a national study on defecation patterns of infants. Using standardised questionnaires and bowel diaries, these were recorded of infants aged 1, 3 and 9â months old. RESULTS: Out of 1292 infants, 46.4% had no gastrointestinal complaints. At 1 and 3â months old, 3.9% and 0.9% infants, respectively, fulfilled the Rome III criteria for infant dyschezia. However, at the same time points, parents of 17.3% and 6.5% of infants, respectively, reported symptoms preceding defecation while not strictly fulfilling the Rome III criteria ('modified Rome III criteria'). Dyschezia-like symptoms (Rome III criteria) were also reported in 0.9% of 9-month-old infants, with 5.7% having symptoms (modified Rome III criteria). Only 3/61 (4.9%) Rome III dyschezia infants and 1/306 (0.3%) infants with modified Rome III criteria at 1 or 3â months had symptoms fitting the diagnosis of infant functional constipation at 9â months old. CONCLUSIONS: The present definition of infant dyschezia seems too strict. We propose to widen the definition in terms of symptoms as well as age in order to better fit the appreciation of the parents. The prevalence of infant dyschezia declines with age. There seems to be no relation to the development of functional constipation.
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Estreñimiento/epidemiología , Defecación , Estreñimiento/diagnóstico , Femenino , Humanos , Lactante , Masculino , Prevalencia , Estudios Prospectivos , Encuestas y CuestionariosRESUMEN
OBJECTIVES: Rome criteria were formulated to define functional gastrointestinal disorders (Rome III criteria, 2006) excluding organic diagnoses when alarm symptoms were absent. The aims of the study were to validate the Rome III criteria as to their capacity to differentiate between organic and functional abdominal pain and to assess the role of alarm symptoms in this differentiation. METHODS: During 2 years all of the patients (ages 4-16 years) presenting with recurrent abdominal pain (Apley criteria) and referred to secondary care were included. Clinical diagnoses were based on protocolized evaluation and intervention with 6-month follow-up. Alarm symptoms were registered. Rome III criteria for functional pain syndromes were assigned independently. Descriptive statistical analyses were performed. RESULTS: In 200 patients (87 boys, mean age 8.8 years), organic (17%), functional (40%), combined organic and functional (9%), spontaneous recovery (27%), and other (8%) clinical diagnoses were established. Alarm symptoms were found in 57.5% (organic causes 56%, functional causes 61%). The evaluation for Rome symptom clusters revealed symptoms of irritable bowel syndrome in 27%, functional dyspepsia in 15%, functional abdominal pain in 28%, functional abdominal pain syndrome in 14.5%, and no pain syndrome in 15.5%. Rome diagnoses, based on symptoms and absence of alarm symptoms, predicted functional clinical diagnosis with sensitivity 0.35 (95% confidence interval 0.27-0.43), specificity 0.60 (0.46-0.73), positive predictive value 0.71 (0.61-0.82), and negative predictive value of 0.24 (0.17-0.32). CONCLUSIONS: The Rome III criteria for abdominal pain are not specific enough to rule out organic causes. Alarm symptoms do not differentiate between organic and functional abdominal pain.
Asunto(s)
Dolor Abdominal/diagnóstico , Ansiedad , Dispepsia/diagnóstico , Enfermedades Gastrointestinales/diagnóstico , Síndrome del Colon Irritable/diagnóstico , Dolor Abdominal/etiología , Dolor Abdominal/psicología , Adolescente , Ansiedad/epidemiología , Niño , Preescolar , Dispepsia/complicaciones , Dispepsia/psicología , Femenino , Enfermedades Gastrointestinales/complicaciones , Enfermedades Gastrointestinales/psicología , Humanos , Síndrome del Colon Irritable/complicaciones , Síndrome del Colon Irritable/psicología , Masculino , Prevalencia , Recurrencia , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Encuestas y CuestionariosRESUMEN
OBJECTIVE: The aim of this study was to evaluate the current implementation of the 2009 North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition-European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines, and to assess proton pump inhibitors' (PPIs) prescribing patterns among pediatricians from different European countries. METHODS: A randomly identified sample of general pediatricians distributed across 11 European countries. They were asked to complete a case report-structured questionnaire investigating their approaches to infants, children, and adolescents with symptoms suggestive of gastroesophageal reflux. RESULTS: A total of 567 European general pediatricians completed the study questionnaire. Only 1.8% of them showed complete adherence to the guidelines. Forty-six percent of them reported that they diagnose gastroesophageal reflux disease based on clinical symptoms irrespective of the age of the child; 39% prescribe PPIs in infants with unexplained crying and/or distressed behavior and 36% prescribe PPIs in infants with uncomplicated recurrent regurgitation and vomiting; 48% prescribed PPIs in children younger than 8 to 12 years with vomiting and heartburn, without specific testing; 45% discontinue PPI therapy abruptly rather than tapering the dose. The overall rate of pediatricians overprescribing PPIs was 82%. CONCLUSIONS: The overall results of our survey show that the majority of pediatricians are unaware of 2009 North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition-European Society for Pediatric Gastroenterology, Hepatology, and Nutrition reflux guidelines and often prescribe PPIs despite a lack of efficacy for the symptoms being treated. The overdiagnosis of gastroesophageal reflux disease places undue burden on both families and national health systems, which has not been affected by the publication of international guidelines.
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Reflujo Gastroesofágico/diagnóstico , Reflujo Gastroesofágico/tratamiento farmacológico , Adhesión a Directriz/estadística & datos numéricos , Prescripción Inadecuada/estadística & datos numéricos , Pediatría , Pautas de la Práctica en Medicina/estadística & datos numéricos , Inhibidores de la Bomba de Protones/uso terapéutico , Niño , Llanto , Europa (Continente) , Reflujo Gastroesofágico/complicaciones , Pirosis/tratamiento farmacológico , Pirosis/etiología , Humanos , Lactante , Reflujo Laringofaríngeo/tratamiento farmacológico , Reflujo Laringofaríngeo/etiología , Guías de Práctica Clínica como Asunto , Recurrencia , Encuestas y Cuestionarios , Vómitos/tratamiento farmacológico , Vómitos/etiologíaRESUMEN
UNLABELLED: Recurrent abdominal pain (RAP) in children is generally believed to be functional. In practice, many children with RAP become pain-free with laxative therapy. The aims of the study were to establish the role of (occult) constipation in RAP and to investigate whether patients diagnosed with (occult) constipation could be identified by history and physical examination. During 2 years, all patients (age 4-16 years, secondary referral) fulfilling Apley criteria of RAP were included. After exclusion of gastrointestinal infections and food intolerance, laxatives were advised when pain persisted. (Occult) constipation was defined as 'abdominal pain disappearing with laxative treatment and not reappearing within a 6 month follow up period'; 'occult constipation' was diagnosed in patients who did not fulfil the Rome criteria of constipation. Two hundred children (87 M; median age 8.8 years) were evaluated. (Occult) constipation was found in 92 patients (46 %). Of these, 18 had considerable relief of pain when treated for a somatic cause but experienced complete relief only after laxative measures; they were considered to have two diagnoses. Using multivariate analysis, a simple model was developed with cystitis in past history, early satiety and flatulence as predictors for (occult) constipation. The risk of (occult) constipation ranged from 18/58 if no predictor was present to 4/4 if all three were present. CONCLUSION: Laxatives played a pivotal role in the recovery of patients with RAP. We developed a simple model to identify patients at risk of having (occult) constipation.
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Dolor Abdominal/etiología , Estreñimiento/complicaciones , Dolor Abdominal/tratamiento farmacológico , Adolescente , Niño , Preescolar , Estreñimiento/diagnóstico , Estreñimiento/tratamiento farmacológico , Heces , Femenino , Humanos , Laxativos/uso terapéutico , Masculino , RecurrenciaRESUMEN
BACKGROUND: Intestinal microbiome may play a role in the pathogenesis of coeliac disease (CD). Studies comparing intestinal microbiome in children with and without CD are contradictory. AIM: To compare the composition and diversity of the duodenal mucosa-associated microbiome in children with untreated CD and control children without CD and to identify specific gut bacteria associated with CD at diagnosis. METHODS: Total microbiome profile in small bowel biopsies of 42 children (21 with untreated CD and 21 age-matched controls) were analyzed by means of IS-pro, a 16S-23S interspacer (IS) region-based profiling method. RESULTS: Both groups showed a similar mucosa-associated microbiome pattern and diversity, with high concentrations of the genera Streptococcus, Lactobacillus, and Clostridium. CONCLUSION: Mucosa-associated duodenal microbiome composition and diversity did not differ between children with untreated CD and control children. Duodenal mucosa-associated bacteria do not seem to play an important role in the pathogenesis of CD.
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Enfermedad Celíaca/microbiología , Duodeno/microbiología , Mucosa Intestinal/microbiología , Metagenoma/genética , Adolescente , Biopsia , Estudios de Casos y Controles , Niño , Preescolar , Clostridium/genética , Clostridium/aislamiento & purificación , Cartilla de ADN/química , ADN Bacteriano/análisis , Femenino , Humanos , Limosilactobacillus reuteri/genética , Limosilactobacillus reuteri/aislamiento & purificación , Masculino , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN/métodos , Streptococcus/genética , Streptococcus/aislamiento & purificaciónRESUMEN
Patients with celiac disease (CD) lacking both human leukocyte antigen (HLA)-DQ2.5 in cis (DQA1*05:01, DQB1*02:01) or trans (DQA1*05:05, DQB1*02:02) configuration and HLA-DQ8 (DQA1*03:01, DQB1*03:02) are considered to be rare. Therefore, absence of these genotypes is commonly used to exclude the diagnosis of CD. To investigate whether this approach is justified, the HLA-distribution in 155 children with CD was studied. A total of 139 (89.7%) patients carried HLA-DQ2.5. Of the remaining patients, 7 (4.5%) carried HLA-DQ8. Interestingly, the 9 (5.8%) patients lacking HLA-DQ2.5 and HLA-DQ8 carried HLA-DQA1*02:01 and -DQB1*02:02 (HLA-DQ2.2). Therefore, HLA-DQ2.2 should be included as an important HLA-type related to CD.
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Enfermedad Celíaca/metabolismo , Antígenos HLA-DQ/metabolismo , Cadenas alfa de HLA-DQ/metabolismo , Cadenas beta de HLA-DQ/metabolismo , Leucocitos/metabolismo , Alelos , Biomarcadores/sangre , Biomarcadores/metabolismo , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/genética , Enfermedad Celíaca/inmunología , Niño , Estudios de Cohortes , Exones , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Antígenos HLA-DQ/sangre , Antígenos HLA-DQ/genética , Cadenas alfa de HLA-DQ/sangre , Cadenas alfa de HLA-DQ/genética , Cadenas beta de HLA-DQ/sangre , Cadenas beta de HLA-DQ/genética , Humanos , Leucocitos/inmunología , Masculino , Países Bajos , Estudios Prospectivos , Isoformas de Proteínas/sangre , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Estudios RetrospectivosRESUMEN
A 10-year-old girl presented with chronic, itchy papulo-vesiculous skin lesions. Diagnosis of dermatitis herpetiformis was established based on elevated IgA endomysium and transglutaminase type 2 antibodies, and histological findings on skin biopsy. Dermatitis herpetiformis is the cutaneous expression of celiac disease. Treatment consists of gluten-free diet and diafenylsulfon.
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Enfermedad Celíaca/diagnóstico , Dermatitis Herpetiforme/diagnóstico , Glútenes/administración & dosificación , Glútenes/efectos adversos , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/dietoterapia , Niño , Dermatitis Herpetiforme/dietoterapia , Dermatitis Herpetiforme/etiología , Femenino , Humanos , Inmunoglobulina A/análisisRESUMEN
BACKGROUND: Double-balloon enteroscopy is a technique that utilises an endoscope equipped with an overtube to inspect the entire small bowel. Diagnostic and therapeutic procedures can be performed during this type of endoscopy. So far, the use of this technique in children has been limited. In this article, we present a case illustrating the indication, efficacy and safety of this technique in the paediatric setting. CASE DESCRIPTION: In a 17-year-old girl with chronic abdominal pain and iron deficiency anaemia, neither gastroduodenoscopy nor ileocolonoscopy revealed any abnormality. Video capsule endoscopy revealed a few suspicious erosive lesions and ulcerations, presumed to be located in the ileum. A double-balloon enteroscopy was then performed during which an ulcer was seen on a small-bowel stenosis; this was consistent with the diagnosis of Crohn's disease. The symptoms diminished after treatment with budesonide and azathioprine was initiated. CONCLUSION: Double-balloon enteroscopy also appears to be an effective and safe method of diagnosing and performing therapeutic interventions in paediatric small bowel pathology.
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Dolor Abdominal/diagnóstico , Anemia Ferropénica/diagnóstico , Enfermedad de Crohn/diagnóstico , Enteroscopía de Doble Balón/métodos , Dolor Abdominal/etiología , Adolescente , Anemia Ferropénica/etiología , Enfermedad de Crohn/complicaciones , Diagnóstico Diferencial , Enteroscopía de Doble Balón/efectos adversos , Femenino , Enfermedades Gastrointestinales/diagnóstico , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiología , HumanosRESUMEN
Eosinophilic esophagitis (EoE) is a relatively new condition resulting in dysphagia or symptoms resembling gastroesophageal reflux disease, symptoms that also are common in patients with a history of esophageal atresia. We present 2 patients with persistent dysphagia after repair of esophageal atresia that was caused by EoE. Although the exact etiology and pathogenesis of EoE remain unclear, it is now generally accepted that it is the result of a T-helper cell 2-type immune response with a crucial role for the eosinophil-specific chemotaxis factor eotaxin 3 and eosinophils. Because there are genetic similarities between esophageal atresia and EoE, we speculate that patients with esophageal atresia are at increased risk for developing EoE.
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Eosinofilia/etiología , Atresia Esofágica/cirugía , Esofagitis/etiología , Complicaciones Posoperatorias/etiología , Anomalías Múltiples/cirugía , Canal Anal/anomalías , Antiulcerosos/uso terapéutico , Esófago de Barrett/etiología , Quimiocina CCL26 , Quimiocinas CC/inmunología , Niño , Terapia Combinada , Trastornos de Deglución/etiología , Susceptibilidad a Enfermedades , Eosinofilia/diagnóstico , Eosinofilia/genética , Eosinofilia/inmunología , Atresia Esofágica/complicaciones , Atresia Esofágica/genética , Esofagitis/diagnóstico , Esofagitis/genética , Esofagitis/inmunología , Esófago/anomalías , Femenino , Estudios de Seguimiento , Hipersensibilidad a los Alimentos/complicaciones , Hipersensibilidad a los Alimentos/inmunología , Factores de Transcripción Forkhead/genética , Fundoplicación , Reflujo Gastroesofágico/diagnóstico , Reflujo Gastroesofágico/tratamiento farmacológico , Reflujo Gastroesofágico/cirugía , Eliminación de Gen , Cardiopatías Congénitas , Hernia Hiatal/complicaciones , Humanos , Recién Nacido , Riñón/anomalías , Deformidades Congénitas de las Extremidades , Masculino , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/inmunología , Columna Vertebral/anomalías , Células Th2/inmunología , Tráquea/anomalías , Fístula Traqueoesofágica/cirugíaRESUMEN
UNLABELLED: Coeliac disease (CD) is an immune-mediated systemic condition elicited by gluten and related prolamines in genetically predisposed individuals and characterised by gluten-induced symptoms and signs, specific antibodies, a specific human leukocyte antigen (HLA) type and enteropathy. The risk of coeliac disease is increased in first-degree relatives, certain syndromes including Down syndrome and autoimmune disorders. It is thought to occur in 1 in 100-200 individuals, but still only one in four cases is diagnosed. Small-bowel biopsy is no longer deemed necessary in a subgroup of patients, i.e. when all of the following are present: typical symptoms or signs, high titres of and transglutaminase antibodies, endomysial antibodies, and HLA-type DQ2 or DQ8. In all other cases, small-bowel biopsy remains mandatory for a correct diagnosis. Therapy consists of a strictly gluten-free diet. This should result in complete disappearance of symptoms and of serological markers. Adequate follow-up is considered essential. CONCLUSION: Although small-bowel biopsy may be omitted in a minority of patients, small-bowel biopsy is essential for a correct diagnosis of CD in all other cases. Diagnostic work-up should be completed before treatment with gluten-free diet instituted.
Asunto(s)
Enfermedad Celíaca , Biopsia , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/dietoterapia , Enfermedad Celíaca/epidemiología , Enfermedad Celíaca/fisiopatología , Dieta Sin Gluten , Humanos , Incidencia , Intestino Delgado/patología , Países Bajos/epidemiología , PronósticoRESUMEN
BACKGROUND: Congenital oesophageal stenosis is a rare cause of food passage symptoms in infants. It has a typical presentation with symptoms of dysphagia of solid food, starting at the time of introducing supplementary feeding. CASE DESCRIPTION: We present a 6-month-old girl, who started spitting and coughing and had a slower growth rate after the introduction of solid food. Using upper gastrointestinal tract radiography, oesophagogastroscopy and histopathological examination, a congenital oesophageal stenosis due to tracheobronchial remnants was demonstrated. The stenosis was surgically removed. This case description is typical for congenital oesophageal stenosis. CONCLUSION: Early recognition of the typical presentation of congenital oesophageal stenosis can prevent unnecessary investigation and delay in treatment. Surgical resection of the stenotic oesophageal segment usually results in full recovery.
Asunto(s)
Trastornos de Deglución/etiología , Estenosis Esofágica/congénito , Estenosis Esofágica/complicaciones , Estenosis Esofágica/diagnóstico , Estenosis Esofágica/cirugía , Femenino , Humanos , Lactante , Alimentos Infantiles/efectos adversos , DesteteRESUMEN
We report a misleading outcome of colonic transit time (CTT) assessment in an adolescent girl with functional constipation. We found prolonged total and right segmental CTT despite high doses of oral polyethylene glycol 4000 and repeated treatment with polyethylene glycol-electrolyte solution (Klean-Prep®) by nasogastric tube. A colonoscopy aiming at disimpaction of a possible faecal mass revealed an empty colon with dozens of radio-opaque markers adhered to the colonic wall. This report shows that the result of a CTT cannot be accepted blindly. Especially the clustering of many markers within narrow margins might point at entrapment of markers in mucus against the colonic wall.