Benefits of Paediatric to Adult Transition Programme in Inflammatory Bowel Disease: The BUTTERFLY Study of GETECCU and SEGHNP.

(1) Background: Transition is a planned movement of paediatric patients to adult healthcare systems, and its implementation is not yet established in all inflammatory bowel disease (IBD) units. The aim of the study was to evaluate the impact of transition on IBD outcomes. (2) Methods: Multicentre, retrospective and observational study of IBD paediatric patients transferred to an adult IBD unit between 2017-2020. Two groups were compared: transition (≥1 joint visit involving the gastroenterologist, the paediatrician, a programme coordinator, the parents and the patient) and no-transition. Outcomes within one year after transfer were analysed. The main variable was poor clinical outcome (IBD flare, hospitalisation, surgery or any change in the treatment because of a flare). Predictive factors of poor clinical outcome were identified with multivariable analysis. (3) Results: A total of 278 patients from 34 Spanish hospitals were included. One hundred eighty-five patients (67%) from twenty-two hospitals (65%) performed a structured transition. Eighty-nine patients had poor clinical outcome at one year after transfer: 27% in the transition and 43% in the no-transition group (p = 0.005). One year after transfer, no-transition patients were more likely to have a flare (36% vs. 22%; p = 0.018) and reported more hospitalisations (10% vs. 3%; p = 0.025). The lack of transition, as well as parameters at transfer, including IBD activity, body mass index < 18.5 and corticosteroid treatment, were associated with poor clinical outcome. One patient in the transition group (0.4%) was lost to follow-up. (4) Conclusion: Transition care programmes improve patients' outcomes after the transfer from paediatric to adult IBD units. Active IBD at transfer impairs outcomes.

Study of adherence to the gluten-free diet in coeliac patients.

INTRODUCTION: The following of a strict gluten-free diet (GFD) is essential in the control of coeliac disease. The aim of this study was to determine the adherence to a GFD in coeliac patients and to evaluate the factors that could influence this adherence. MATERIAL AND METHODS: A descriptive observational study was carried out, in which gluten immunogenic peptides (GIP) were determined in faeces using a semi-quantitative method, and the Coeliac Dietary Adherence Test was completed. Sociodemographic and clinical details were collected, and an ad hoc questionnaire was prepared. RESULTS: Of the 80 patients included, 92.5% were adherent according to the GIP and 86.3% according to Coeliac Dietary Adherence Test (acceptable agreement; Kappa: 0.31, P = .004). The large majority (83.3%) of patients with positive GIP gave negative anti-transglutaminase antibodies in the latest determination. Current age and time of onset were significantly associated with adherence. Those with a positive GIP had a mean age of 5 years more (P = .0001) and were 52 months more on a GFD (P = .025). One quarter of those surveyed considered the diet difficult to follow. Just under two-thirds (60%) considered that the variability in the eating site was an important factor in leading to infringements, with children's parties being the main area where they occurred (66.7%). The lack of variety (61.4%) and the increased cost (98.6%) of gluten-free foods is highlighted. CONCLUSIONS: The adherence to the GFD is generally good. The analysis of GIP helps to detect non-adherent patients that would pass unnoticed in other circumstances. Measures must be established in order to maintain good long-term adherence, taking into account the risk factors and difficulties detected.

Estudio de la adherencia a la dieta sin gluten en pacientes celiacos / Study of adherence to the gluten-free diet in coeliac patients

Introducción: La realización estricta de una dieta sin gluten (DSG) es fundamental para el control de la enfermedad celiaca. El objetivo del estudio fue analizar la adherencia a la DSG en celiacos y evaluar factores que pudieran influir en la misma. Material y métodos: Estudio observacional descriptivo. Se realizó una determinación de péptidos inmunogénicos del gluten (GIP) en heces con método semicuantitativo y se cumplimentó el cuestionario Celiac Dietary Adherence Test. Se recogieron datos sociodemográficos, clínicos y se elaboró una encuesta ad hoc. Resultados: Se incluyeron 80 pacientes. El 92,5% eran adherentes mediante GIP y 86,3% con Celiac Dietary Adherence Test (concordancia aceptable; Kappa: 0,31, p=0,004). El 83,3% de los pacientes con GIP positivos tenía la última determinación de anticuerpos antitransglutaminasa negativos. La edad actual y el tiempo de evolución se asociaron significativamente con la adherencia. Aquellos con GIP positivos tenían de media 5 años más (p=0,0001) y llevaban 52 meses más de DSG (p=0,025). Una cuarta parte de los encuestados consideraba difícil realizar la dieta. El 60% consideraba que la variabilidad en el lugar de comida era importante para inducir transgresiones, siendo las fiestas infantiles el principal lugar donde sucedían (66,7%). Se destaca la escasa variedad (61,4%) y el elevado coste (98,6%) de los alimentos sin gluten. Conclusiones: La adherencia a la DSG es en general, buena. El análisis de GIP permitió detectar a pacientes no adherentes que en otras circunstancias pasarían desapercibidos. Se deben establecer medidas para mantener una buena adhesión de manera prolongada, considerando los factores de riesgo y dificultades detectados. (AU)

Introduction: The following of a strict gluten-free diet (GFD) is essential in the control of coeliac disease. The aim of this study was to determine the adherence to a GFD in coeliac patients and to evaluate the factors that could influence this adherence. Material and methods: A descriptive observational study was carried out, in which gluten immunogenic peptides (GIP) were determined in faeces using a semi-quantitative method, and the Coeliac Dietary Adherence Test was completed. Sociodemographic and clinical details were collected, and an ad hoc questionnaire was prepared. Results: Of the 80 patients included, 92.5% were adherent according to the GIP and 86.3% according to Coeliac Dietary Adherence Test (acceptable agreement; Kappa: 0.31, P=.004). The large majority (83.3%) of patients with positive GIP gave negative anti-transglutaminase antibodies in the latest determination. Current age and time of onset were significantly associated with adherence. Those with a positive GIP had a mean age of 5 years more (P=.0001) and were 52 months more on a GFD (P=.025). One quarter of those surveyed considered the diet difficult to follow. Just under two-thirds (60%) considered that the variability in the eating site was an important factor in leading to infringements, with children's parties being the main area where they occurred (66.7%). The lack of variety (61.4%) and the increased cost (98.6%) of gluten-free foods is highlighted. Conclusions: The adherence to the GFD is generally good. The analysis of GIP helps to detect non-adherent patients that would pass unnoticed in other circumstances. Measures must be established in order to maintain good long-term adherence, taking into account the risk factors and difficulties detected. (AU)

[Analysis of health-related quality life in celiac patients]. / Análisis de la calidad de vida relacionada con la salud en pacientes celiacos.

INTRODUCTION: Introduction: treatment of celiac disease is gluten-free diet for life. This can impact the quality of life (QoL) of patients. Objectives:the aim of this study was to evaluate the QoL and the factors with an impact on QoL in a sample of children with celiac disease. Methods and materials: a descriptive observational study. QoL was evaluated using the Celiac Disease Dux Questionnaire (CDDUX). Adherence to gluten-free diet was assessed with the Celiac Dietary Adherence Test (CDAT) and the presence of gluten immunogenic peptides (GIP) in the stools. Sociodemographic and clinical data were collected, and an ad-hoc survey was developed. Results: eighty patients were included. Median CDDUX score was 44.04 points (QoL: "neutral"). Subscale scores included: "communication", 58.3 points ("neutral"); "having CD", 25 points ("Bad"); and "diet", 41.6 points ("neutral"). QoL was worse among patients with celiac relatives (the result of the survey was "bad" vs. "neutral" with p = 0.02) and among those who found unsatisfactory the somatosensory characteristics and the price of gluten-free food (the result of the survey was "bad" vs. "neutral" with p = 0.02). Those who found unsatisfactory the texture of these food reported a worse QoL ("bad" vs. "neutral", p = 0.009). Those who reported eating outside the home as a transgression inducer reported a "bad" QoL; those who did not, reported a "neutral" QoL (p = 0.03). Conclusions: celiac patients report a "neutral" QoL. A poorer QoL was related to having celiac relatives, finding gluten-free food unsatisfactory, and considering eating outside the home as an inducer factor for transgressions.

INTRODUCCIÓN: Introducción: el tratamiento de la enfermedad celiaca es una dieta sin gluten de por vida, lo cual puede repercutir en la calidad de vida (CV) de los pacientes. Objetivos: nuestro objetivo fue evaluar la CV de una muestra de niños celiacos y estudiar los factores que pueden influir en la misma. Material y métodos: estudio observacional descriptivo. Se estudió la CV con el cuestionario Celiac Disease Dux Questionnaire (CDDUX). Se estudió la adherencia con el cuestionario Celiac Dietary Adherence Test (CDAT) y la determinación de péptidos inmunogénicos del gluten (GIP) en heces. Se recogieron datos sociodemográficos y clínicos, y se elaboró una encuesta ad hoc. Resultados: se incluyeron 80 pacientes. La mediana del CDDUX fue de 44,04 puntos (CV "neutra"); la de la subescala "comunicación" fue de 58,3 ("neutra"), la de "tener EC" fue de 25 ("mala") y la de "dieta" fue de 41,6 puntos ("neutra"). La CV fue peor en los pacientes con familiares celiacos ("mala" frente a "neutra", p = 0,02) y en aquellos insatisfechos con las características somatosensoriales y el precio de los alimentos sin gluten ("mala" frente a "neutra", p = 0,02). Los insatisfechos con la textura de estos alimentos tenían peor CV ("mala" frente a "neutra", p = 0,009). Los que consideraban comer fuera de casa como factor inductor de transgresiones referían una CV "mala" y los que no, una "neutra" (p = 0,03). Conclusiones: los pacientes celiacos tienen una CV neutra. El hecho de tener familiares con enfermedad celiaca, la insatisfacción con los alimentos sin gluten y el considerar un factor inductor de transgresiones el comer fuera de casa se relacionaron con una peor calidad de vida.

Gluten-Free Diet: Nutritional Strategies to Improve Eating Habits in Children with Celiac Disease: A Prospective, Single-arm Intervention Study.

BACKGROUND: Elimination of gluten-containing cereals and consumption of ultra-processed gluten-free foods might cause an unbalanced diet, deficient in fiber and rich in sugar and fat, circumstances that may predispose celiac children to chronic constipation. AIM: to evaluate if counseling with a registered dietitian (RD) was capable of improving eating and bowel habits in a celiac pediatric population. METHODS: Dietetic, lipid profile and stool modifications were analyzed, comparing baseline assessments with those twelve months after receiving heathy eating and nutrition education sessions. At both time points, 3-day food records, a bowel habit record and a lipid panel were conducted. Calculated relative intake of macro- and micro-nutrients were compared with current recommendations by the European Food Safety Authority (EFSA). Student's paired t-test, McNemar test, Mandasky test and Pearson correlation tests were used. RESULTS: Seventy-two subjects (58.3% girls) with a mean (standard deviation (SD)) age of 10.2 (3.4) years were included. Baseline diets were imbalanced in macronutrient composition. Significant improvements were observed in their compliance with dietary reference values (DRVs), where 50% of the subjects met fat requirements after the education and 67% and 49% with those of carbohydrates and fiber, respectively (p < 0.001). Celiac children decreased red meat and ultra-processed foods consumption (p < 0.001) and increased fruits and vegetables intake (p < 0.001), leading to a reduction in saturated fat (p < 0.001) and sugar intake (p < 0.001). Furthermore, 92% of the patients achieved a normal bowel habit, including absence of hard stools in 80% of children constipated at baseline (p < 0.001). CONCLUSIONS: RD-led nutrition education is able to improve eating patterns in children with celiac disease (CD).

Spanish Pediatric Inflammatory Bowel Disease Diagnostic Delay Registry: SPIDER Study From Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica.

Background and Aims: Diagnostic delay (DD) is especially relevant in children with inflammatory bowel disease, leading to potential complications. We examined the intervals and factors for DD in the pediatric population of Spain. Methods: We conducted a multicentric prospective study, including 149 pediatric inflammatory bowel disease patients, obtaining clinical, anthropometric, and biochemical data. Time to diagnosis (TD) was divided into several intervals to identify those where the DD was longer and find the variables that prolonged those intervals. Missed opportunities for diagnosis (MODs) were also identified. Results: Overall TD was 4.4 months (interquartile range [IQR] 2.6-10.4), being significantly higher in Crohn's disease (CD) than in ulcerative colitis (UC) (6.3 [IQR 3.3-12.3] vs. 3 [IQR 1.6-5.6] months, p = 0.0001). Time from the visit to the first physician until referral to a pediatric gastroenterologist was the main contributor to TD (2.4 months [IQR 1.03-7.17] in CD vs. 0.83 months [IQR 0.30-2.50] in UC, p = 0.0001). One hundred and ten patients (78.3%) visited more than one physician (29.9% to 4 or more), and 16.3% visited the same physician more than six times before being assessed by the pediatric gastroenterologist. The number of MODs was significantly higher in CD than that in UC patients: 4 MODs (IQR 2-7) vs. 2 MODs ([IQR 1-5], p = 0.003). Referral by pediatricians from hospital care allowed earlier IBD diagnosis (odds ratio 3.2 [95% confidence interval 1.1-8.9], p = 0.025). Conclusions: TD and DD were significantly higher in CD than those in UC. IBD patients (especially those with CD) undergo a large number of medical visits until the final diagnosis.

Assessment of Two Nutritional Screening Tools in Hospitalized Children.

AIM: to evaluate validity and concordance of Screening Tool for the Assessment of Malnutrition in Pediatrics (STAMP) and Screening Tool for Risk On Nutritional status and Growth (STRONGkids) screening tools for assessment of nutritional risk in pediatric inpatients. METHODS: Prospective longitudinal observational multicenter study in children aged 1 month or older admitted as inpatients. Weight, height, cause of admission, demographic data, length of stay, and nutritional interventions were recorded. STAMP and STRONGkids were applied within the first 72 h of admission. Anthropometric measurements were recorded again 12-18 months after admission. RESULTS: Eighty-one patients with median age of 4.1 years completed the study. Agreement between tools was moderate (κ = 0.47). STAMP had a greater tendency to classify patients as high risk (12.3% vs. 2.5%). Both tools showed very weak correlation with height for age. All undernourished patients at the beginning and the end of the study were classified as medium or high risk by STAMP and STRONGkids (100% sensitivity), although specificity was below 50% in all cases. There were no differences in length of stay based on nutritional risk with any of the tools. CONCLUSIONS: STAMP and STRONGkids demonstrated moderate agreement, with high sensitivity but low specificity for the diagnosis of undernutrition. Further studies are required to analyze cost-effectiveness of these tools and nutritional interventions derived from them.

Predictors of Response to Exclusive Enteral Nutrition in Newly Diagnosed Crohn´s Disease in Children: PRESENCE Study from SEGHNP.

Exclusive enteral nutrition (EEN) has been shown to be more effective than corticosteroids in achieving mucosal healing in children with Crohn´s disease (CD) without the adverse effects of these drugs. The aims of this study were to determine the efficacy of EEN in terms of inducing clinical remission in children newly diagnosed with CD, to describe the predictive factors of response to EEN and the need for treatment with biological agents during the first 12 months of the disease. We conducted an observational retrospective multicentre study that included paediatric patients newly diagnosed with CD between 2014-2016 who underwent EEN. Two hundred and twenty-two patients (140 males) from 35 paediatric centres were included, with a mean age at diagnosis of 11.6 ± 2.5 years. The median EEN duration was 8 weeks (IQR 6.6-8.5), and 184 of the patients (83%) achieved clinical remission (weighted paediatric Crohn's Disease activity index [wPCDAI] < 12.5). Faecal calprotectin (FC) levels (µg/g) decreased significantly after EEN (830 [IQR 500-1800] to 256 [IQR 120-585] p < 0.0001). Patients with wPCDAI ≤ 57.5, FC < 500 µg/g, CRP >15 mg/L and ileal involvement tended to respond better to EEN. EEN administered for 6-8 weeks is effective for inducing clinical remission. Due to the high response rate in our series, EEN should be used as the first-line therapy in luminal paediatric Crohn's disease regardless of the location of disease and disease activity.

Tiempo hasta el diagnóstico en la enfermedad inflamatoria intestinal pediátrica: claves para un diagnóstico precoz / Time to diagnosis in paediatric inflammatory bowel disease: Key points for an early diagnosis

La enfermedad inflamatoria intestinal pediátrica continúa siendo poco prevalente en nuestro medio. El comienzo de los síntomas puede ser insidioso y el diagnóstico precoz permite disminuir las complicaciones y las secuelas de la enfermedad, así como mejorar el pronóstico. Conviene definir los diferentes intervalos que componen el tiempo hasta el diagnóstico, así como sus peculiaridades y condicionantes para poder actuar sobre ellos y evitar, en la medida de lo posible, que se demore el diagnóstico, lo que repercutirá directamente sobre la salud de nuestros pacientes. Esta revisión pretende proporcionar herramientas para que cada vez sea más precoz el diagnóstico de la enfermedad

Paediatric inflammatory bowel disease is not very common in Spain. Its onset can be silent and an early diagnosis reduces complications and sequelae related to the disease, and can improve the prognosis. It is advisable to define the different intervals into which the time until the diagnosis is divided, as well as the peculiarities and conditions in order to be able to act on them and, to avoid, as far as possible, the diagnostic delay. The aim of this review is to provide tools to reduce the time to diagnosis

[Time to diagnosis in paediatric inflammatory bowel disease: Key points for an early diagnosis]. / Tiempo hasta el diagnóstico en la enfermedad inflamatoria intestinal pediátrica: claves para un diagnóstico precoz.

Paediatric inflammatory bowel disease is not very common in Spain. Its onset can be silent and an early diagnosis reduces complications and sequelae related to the disease, and can improve the prognosis. It is advisable to define the different intervals into which the time until the diagnosis is divided, as well as the peculiarities and conditions in order to be able to act on them and, to avoid, as far as possible, the diagnostic delay. The aim of this review is to provide tools to reduce the time to diagnosis.

Efecto de la alimentación saludable previa a la intervención con dieta baja en FODMAP en pacientes pediátricos con síndrome de intestino irritable / Effect of healthy eating before intervention with a low FODMAP diet in pediatric patients with irritable bowel syndrome

Introducción: una dieta baja en oligosacáridos, disacáridos, monosacáridos y polioles fermentables (FODMAP) puede ser eficaz en el tratamiento de los pacientes pediátricos con síndrome de intestino irritable (SII). Su complejidad y efectos secundarios hacen de la misma una alternativa terapéutica secundaria. Objetivo: demostrar que la educación nutricional, dirigida a optimizar la dieta de los niños con SII, es capaz de mejorar sus síntomas gastrointestinales sin tener que realizar una dieta baja en FODMAP. Métodos: estudio de intervención prospectivo. Se analizaron los cambios de los síntomas gastrointestinales, mediante el cuestionario pediátrico de calidad de vida para síntomas gastrointestinales (PedsQL(TM) síntomas GI), tras recibir educación nutricional basada en alimentación saludable. Asimismo, se analizaron los cambios antropométricos y de hábitos dietéticos tras dicha intervención. Resultados: se incluyeron 21 pacientes (12 niñas) con edad media de 10,6 años (5-14 años). Se observó una dieta con un exceso de ingesta de azúcares simples, grasas saturadas y sal junto con un déficit de fibra. Tras la intervención, se apreció un aumento de 8,07 puntos en el cuestionario (IC del 95%: 13,42 a -2,73; p = 0,005). Además, se observó una pérdida de peso significativa en los pacientes con sobrepeso y obesidad (disminución del Z-score de índice de masa corporal [IMC] 0,62 DE; p = 0,001). Se observaron cambios significativos en los hábitos dietéticos: aumento de consumo de hidratos de carbono complejos, frutas y verduras y disminución de azúcares simples. Conclusiones: la alimentación saludable resulta eficaz para mejorar los síntomas gastrointestinales en pacientes pediátricos con SII, sin requerir la exclusión de FODMAP

Background: a diet low in fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAP) may be effective in the treatment of pediatric patients with irritable bowel syndrome (IBS). Its complexity and side effects make it a secondary therapeutic alternative. Objective: to demonstrate that nutritional education, aimed at optimizing the diet of children with IBS, is able to improve gastrointestinal symptoms of children without following a diet low in FODMAP. Methods: prospective intervention study. Changes in gastrointestinal symptoms were analyzed by means of the Pediatric Quality of Life Inventory(TM) Gastrointestinal Symptoms (PedsQL(TM) GI Symptoms), after receiving nutritional education based on a healthy diet. Likewise, anthropometric changes and dietary habits were analyzed. Results: twenty-one patients were included (12 girls) with a mean age of 10.6 years (5-14 years). A diet with excess intake of simple sugars, saturated fats and salt along with fiber deficit was observed. After the intervention, an increase in 8.07 points was observed in the inventory (95% CI: 13.42 a -2.73, p = 0.005). Additionally, significant weight loss was observed in overweight and obese patients (decrease in body mass index [BMI]; Z-score 0.62 SD, p = 0.001). Significant changes in dietary habits were observed: increased consumption of complex carbohydrates, fruits and vegetables and reduction of simple sugars. Conclusions: healthy eating is effective to improve gastrointestinal symptoms in pediatric patients with IBS, without requiring the exclusion of FODMAP

[Effect of healthy eating before intervention with a low FODMAP diet in pediatric patients with irritable bowel syndrome]. / Efecto de la alimentación saludable previa a la intervención con dieta baja en FODMAP en pacientes pediátricos con síndrome de intestino irritable.

INTRODUCTION: Background: a diet low in fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAP) may be effective in the treatment of pediatric patients with irritable bowel syndrome (IBS). Its complexity and side effects make it a secondary therapeutic alternative. Objective: to demonstrate that nutritional education, aimed at optimizing the diet of children with IBS, is able to improve gastrointestinal symptoms of children without following a diet low in FODMAP. Methods: prospective intervention study. Changes in gastrointestinal symptoms were analyzed by means of the Pediatric Quality of Life Inventory™ Gastrointestinal Symptoms (PedsQL™ GI Symptoms), after receiving nutritional education based on a healthy diet. Likewise, anthropometric changes and dietary habits were analyzed. Results: twenty-one patients were included (12 girls) with a mean age of 10.6 years (5-14 years). A diet with excess intake of simple sugars, saturated fats and salt along with fiber deficit was observed. After the intervention, an increase in 8.07 points was observed in the inventory (95% CI: 13.42 a -2.73, p = 0.005). Additionally, significant weight loss was observed in overweight and obese patients (decrease in body mass index [BMI]; Z-score 0.62 SD, p = 0.001). Significant changes in dietary habits were observed: increased consumption of complex carbohydrates, fruits and vegetables and reduction of simple sugars. Conclusions: healthy eating is effective to improve gastrointestinal symptoms in pediatric patients with IBS, without requiring the exclusion of FODMAP.

INTRODUCCIÓN: Introducción: una dieta baja en oligosacáridos, disacáridos, monosacáridos y polioles fermentables (FODMAP) puede ser eficaz en el tratamiento de los pacientes pediátricos con síndrome de intestino irritable (SII). Su complejidad y efectos secundarios hacen de la misma una alternativa terapéutica secundaria. Objetivo: demostrar que la educación nutricional, dirigida a optimizar la dieta de los niños con SII, es capaz de mejorar sus síntomas gastrointestinales sin tener que realizar una dieta baja en FODMAP. Métodos: estudio de intervención prospectivo. Se analizaron los cambios de los síntomas gastrointestinales, mediante el cuestionario pediátrico de calidad de vida para síntomas gastrointestinales (PedsQL™ síntomas GI), tras recibir educación nutricional basada en alimentación saludable. Asimismo, se analizaron los cambios antropométricos y de hábitos dietéticos tras dicha intervención. Resultados: se incluyeron 21 pacientes (12 niñas) con edad media de 10,6 años (5-14 años). Se observó una dieta con un exceso de ingesta de azúcares simples, grasas saturadas y sal junto con un déficit de fibra. Tras la intervención, se apreció un aumento de 8,07 puntos en el cuestionario (IC del 95%: 13,42 a -2,73; p = 0,005). Además, se observó una pérdida de peso significativa en los pacientes con sobrepeso y obesidad (disminución del Z-score de índice de masa corporal [IMC] 0,62 DE; p = 0,001). Se observaron cambios significativos en los hábitos dietéticos: aumento de consumo de hidratos de carbono complejos, frutas y verduras y disminución de azúcares simples. Conclusiones: la alimentación saludable resulta eficaz para mejorar los síntomas gastrointestinales en pacientes pediátricos con SII, sin requerir la exclusión de FODMAP.

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.

BACKGROUND: Postzygotic de novo mutations lead to the phenomenon of gene mosaicism. The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in terms of the body distribution of postzygotic mutations. Mosaicism has been reported occasionally in patients with primary immunodeficiency diseases (PIDs) since the early 1990s, but its real involvement has not been systematically addressed. OBJECTIVE: We sought to investigate the incidence of gene mosaicism in patients with PIDs. METHODS: The amplicon-based deep sequencing method was used in the 3 parts of the study that establish (1) the allele frequency of germline variants (n = 100), (2) the incidence of parental gonosomal mosaicism in families with PIDs with de novo mutations (n = 92), and (3) the incidence of mosaicism in families with PIDs with moderate-to-high suspicion of gene mosaicism (n = 36). Additional investigations evaluated body distribution of postzygotic mutations, their stability over time, and their characteristics. RESULTS: The range of allele frequency (44.1% to 55.6%) was established for germline variants. Those with minor allele frequencies of less than 44.1% were assumed to be postzygotic. Mosaicism was detected in 30 (23.4%) of 128 families with PIDs, with a variable minor allele frequency (0.8% to 40.5%). Parental gonosomal mosaicism was detected in 6 (6.5%) of 92 families with de novo mutations, and a high incidence of mosaicism (63.9%) was detected among families with moderate-to-high suspicion of gene mosaicism. In most analyzed cases mosaicism was found to be both uniformly distributed and stable over time. CONCLUSION: This study represents the largest performed to date to investigate mosaicism in patients with PIDs, revealing that it affects approximately 25% of enrolled families. Our results might have serious consequences regarding treatment and genetic counseling and reinforce the use of next-generation sequencing-based methods in the routine analyses of PIDs.

Manejo de la alergia a proteína de leche de vaca por los gastroenterólogos españoles / Attitudes towards cow's milk protein allergy management by spanish gastroenterologist

INTRODUCCIÓN: La alergia alimentaria es un problema creciente, siendo la proteína de leche de vaca la principal causa en niños. Sin un proceso diagnóstico adecuado, existe un elevado riesgo de sobrediagnóstico e infradiagnóstico y, por lo tanto, de sobretratamiento e infratratamiento. El objetivo de nuestro estudio fue analizar la variabilidad en el manejo de la alergia a proteína de leche de vaca (APLV) por los gastroenterólogos pediátricos españoles. MÉTODOS: Se envió un cuestionario de 50 preguntas a través de la lista de email de la Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátricas. RESULTADOS: Recibimos 73 cuestionarios de los 321 enviados. Solo 3 de las respuestas lograron más del 90% de acuerdo. El 33% considera que la provocación oral es necesaria para el diagnóstico de APLV siempre. El 25% considera que la mejoría clínica tras la retirada de las proteínas de leche de vaca es suficiente para el diagnóstico. La provocación oral es realizada en domicilio por el 83,5% de los encuestados en APLV no IgE mediada. Los hidrolizados extensos de caseína son el tratamiento de elección (69,9%). Las fórmulas de soja, la última opción. Casi todos los encuestados conocían la existencia de guías de manejo de APLV, siendo las de la Sociedad Europea de Gastroenterología, Hepatología y Nutrición Pediátrica las más utilizadas (64,4%). El 23% considera que su conocimiento sobre alergia es inadecuado. CONCLUSIONES: Aunque la APLV es una patología prevalente que los gastroenterólogos pediátricos llevan décadas tratando, hemos encontrado una gran variabilidad en su manejo. Existe posibilidad de mejora en este campo en el futuro

INTRODUCTION: Food allergy is an increasing health problem in the developed world. Cow's milk protein is the main cause of food allergy in infants. Without an appropriate diagnostic workup, there is a high risk of both over- and underdiagnosis and therefore, over and undertreatment. The objective of our study was to analyze the variability in cow's milk protein allergy (CMPA) management by pediatric gastroenterologists in Spain. METHODS: A fifty item questionnaire, including open and closed items in a Likert's scale from 0 to 5, was drafted and distributed through the Spanish Society for Pediatric Gastroenterology, Hepatology and Nutrition (SEGHNP) e-mail list. RESULTS: Seventy-three questionnaires were received back out of 321. Only 3 of the items achieved concordance greater than 90%. Thirty-three percent considered oral challenge to be necessary for the diagnosis of CMPA under any circumstance. Twenty-five percent considered that symptom improvement after cow's milk removal was enough for the diagnosis. Oral challenge was performed at home by 83.5% in non-IgE mediated cases. Extensively hydrolyzed casein formulas were the treatment of choice for 69.9%. Soy formulas were the last option. Almost all respondents were aware of the existence of clinical guidelines on CMPA, being European Society of Pediatric Gastroenterology, Hepatology and Nutrition guidelines the most followed (64.4%). Twenty-three percent considered that their knowledge about allergy was inadequate. CONCLUSIONS: Although CMPA is a prevalent condition that pediatric gastroenterologists have been treating for decades, we found a huge variability on its management. There is potential for improvement in this field among pediatric gastroenterologist in the future

Alergia a proteínas de leche de vaca con afectación cutánea, ¿es necesaria la derivación al dermatólogo? / Cow's milk protein allergy with skin lesions. Is it always necessary to refer to a dermatologist?

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2016: epidemia de enfermedad inflamatoria intestinal en Asturias / 2016: Inflammatory bowel disease epidemic in Asturias

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Granulomas esplénicos en una niña con enfermedad de Crohn / Splenic granulomas in a girl with Crohn's disease

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[Attitudes towards cow's milk protein allergy management by spanish gastroenterologist]. / Manejo de la alergia a proteína de leche de vaca por los gastroenterólogos españoles.

INTRODUCTION: Food allergy is an increasing health problem in the developed world. Cow's milk protein is the main cause of food allergy in infants. Without an appropriate diagnostic workup, there is a high risk of both over- and underdiagnosis and therefore, over and undertreatment. The objective of our study was to analyze the variability in cow's milk protein allergy (CMPA) management by pediatric gastroenterologists in Spain. METHODS: A fifty item questionnaire, including open and closed items in a Likert's scale from 0 to 5, was drafted and distributed through the Spanish Society for Pediatric Gastroenterology, Hepatology and Nutrition (SEGHNP) e-mail list. RESULTS: Seventy-three questionnaires were received back out of 321. Only 3 of the items achieved concordance greater than 90%. Thirty-three percent considered oral challenge to be necessary for the diagnosis of CMPA under any circumstance. Twenty-five percent considered that symptom improvement after cow's milk removal was enough for the diagnosis. Oral challenge was performed at home by 83.5% in non-IgE mediated cases. Extensively hydrolyzed casein formulas were the treatment of choice for 69.9%. Soy formulas were the last option. Almost all respondents were aware of the existence of clinical guidelines on CMPA, being European Society of Pediatric Gastroenterology, Hepatology and Nutrition guidelines the most followed (64.4%). Twenty-three percent considered that their knowledge about allergy was inadequate. CONCLUSIONS: Although CMPA is a prevalent condition that pediatric gastroenterologists have been treating for decades, we found a huge variability on its management. There is potential for improvement in this field among pediatric gastroenterologist in the future.