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1.
An Pediatr (Engl Ed) ; 101(4): 267-277, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39396896

RESUMO

Coeliac disease is a common condition for which the only current treatment is a gluten-free diet. Adherence to this diet is not always easy and is associated with a reduction in quality of life for the patient and their family. Non-adherence is associated with complications of varying severity. The lack of control at the outpatient care level in a high percentage of these patients evinces the need to improve follow-up protocols and the approach to care delivery with coordination of paediatric gastroenterology units (PGU) and primary care paediatricians. With this aim in mind, the present document was developed by consensus to offer a set of recommendations adapted to our region, based on the recent recommendations published by the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN), and with participation of the pertinent scientific societies, including those concerning the adult population, for the management and follow-up of adolescents and the transition to adult care.


Assuntos
Doença Celíaca , Humanos , Doença Celíaca/terapia , Criança , Adolescente , Dieta Livre de Glúten , Assistência ao Convalescente/métodos , Assistência ao Convalescente/normas , Transição para Assistência do Adulto/normas , Sociedades Médicas , Cooperação do Paciente
2.
Eur J Pediatr ; 183(8): 3233-3241, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38700691

RESUMO

This study aimed to translate, cross-culturally adapt, and validate the CDPQOL questionnaire, a coeliac disease (CD)-specific paediatric health-related quality of life (HRQoL) instrument (CDPQOL), in Spanish children with CD. The CDPQOL questionnaire has two versions for children aged 8-12 and 13-18. Translation and linguistic validation were performed following an international consensus process. Internal consistency was calculated using Cronbach's alpha and McDonald's omega coefficients, and convergent validity was assessed with average variance extracted (AVE). Confirmatory factor analysis (CFA) and exploratory factor analysis (EFA), when necessary, were carried out to assess the construct validity. A total of 235 children were included. In the 8-12 age group, a change in the distribution of items to a new structure of three dimensions (negative emotions, food feelings and social interaction) was required. In this new model, CFA supported the fit of the model (χ2/gl = 1.79, RMSEA = 0.077 (IC 95% 0.05-0.100), CFI = 0.969, TLI 0.960, SRMR = 0.081) and Cronbach's alpha and McDonald's omega coefficients were > 0.7 in all three dimensions. In the 13-18 age group, CFA showed that all fit indexes were acceptable (χ2/gl = 1.702, RMSEA = 0.102 (IC 95% 0.077-0.127), p < 0.001, CFI = 0.956, TLI = 0.947, SRMR = 0.103) and Cronbach's alpha and McDonald's omega coefficients were > 0.7 in all three dimensions, except for uncertainty dimension. Conclusions: The Spanish version of the CDPQOL questionnaire is a useful instrument to assess quality of life in coeliac children whose native language was Spanish spoken in Spain, with changes in item distribution in the younger age group questionnaire. What is Known: • The first specific questionnaire for coeliac children, Dutch Coeliac Disease Questionnaire (CDDUX), which focuses on diet, was translated into Spanish and validated allowing to evaluate the HRQoL of Spanish coeliac children. • Spanish Children and parents feel the disease had no substantial negative impacts on patient HRQoL using this questionnaire, similar to that observed with other countries. What is New: • The age specific for CD children (CDPQOL) was elaborated in the USA and focuses on other aspects not evaluated by CDDUX such as emotional and social issues related to living with CD. • The CDPQOL was translated into Spanish and validated allowing it to be used to assess Spanish coeliac children's QoL.


Assuntos
Doença Celíaca , Psicometria , Qualidade de Vida , Traduções , Humanos , Criança , Doença Celíaca/psicologia , Masculino , Feminino , Espanha , Adolescente , Inquéritos e Questionários , Psicometria/métodos , Reprodutibilidade dos Testes , Análise Fatorial , Comparação Transcultural
3.
J Pediatr Gastroenterol Nutr ; 78(4): 973-995, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38291739

RESUMO

BACKGROUND AND OBJECTIVE: Coeliac disease is a chronic, immune-mediated disorder for which the only treatment consists of lifelong strict adherence to gluten-free diet (GFD). However, there is a lack of evidence-based guidelines on the GFD dietary management of coeliac disease. This position paper, led by the Special Interest Group in coeliac disease of the European Society of Pediatric, Gastroenterology Hepatology, and Nutrition, supported by the Nutrition Committee and the Allied Health Professionals Committee, aims to present evidence-based recommendations on the GFD as well as how to support dietary adherence. METHODS: A wide literature search was performed using the MeSH Terms: "diet, gluten free," "gluten-free diet," "diets, gluten-free," "gluten free diet," and "coeliac disease" in Pubmed until November 8th, 2022. RESULTS: The manuscript provides an overview of the definition of the GFD, regulations as basis to define the term "gluten-free," which foods are naturally gluten-free and gluten-containing. Moreover, it provides recommendations and educational tips and infographics on suitable food substitutes, the importance of reading food labels, risk of gluten cross-contact at home and in public settings, nutritional considerations as well as factors associated to dietary adherence based on available evidence, or otherwise clinical expertise. CONCLUSIONS: This position paper provides guidance and recommendations to support children with coeliac disease to safely adhere to a GFD.


Assuntos
Doença Celíaca , Gastroenterologia , Humanos , Criança , Dieta Livre de Glúten , Opinião Pública , Cooperação do Paciente , Glutens
5.
Nutrients ; 15(5)2023 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-36904266

RESUMO

The worldwide prevalence of asymptomatic coeliac disease (CD) is increasing, which is in part due to the routine screening of children with risk factors. Both symptomatic and asymptomatic patients with CD are at risk of long-term complications. The objective of this study was to compare the clinical characteristics of asymptomatic and symptomatic children at the time of CD diagnosis. A case-control study was conducted using data from a cohort of 4838 CD patients recruited from 73 centers across Spain between 2011 and 2017. A total of 468 asymptomatic patients (cases) were selected and matched by age and sex with 468 symptomatic patients (controls). Clinical data, including any reported symptoms, as well as serologic, genetic, and histopathologic data were collected. No significant differences were found between the two groups in most clinical variables, nor in the degree of intestinal lesion. However, the asymptomatic patients were taller (height z-score -0.12 (1.06) vs. -0.45 (1.19), p < 0.001) and were less likely to have anti transglutaminase IgA antibodies ≥ 10 times the upper normal limit (66.2% vs. 758.4%, p = 0.002). Among the 37.1% of asymptomatic patients who were not screened for CD due to the absence of risk factors, only 34% were truly asymptomatic, while the remaining 66% reported non-specific CD-related symptoms. Therefore, expanding CD screening to any child who undergoes a blood test could reduce the burden of care for some children, as many of those considered asymptomatic reported non-specific CD-related symptoms.


Assuntos
Doença Celíaca , Criança , Humanos , Doença Celíaca/diagnóstico , Estudos de Casos e Controles , Transglutaminases , Programas de Rastreamento , Imunoglobulina A , Autoanticorpos
6.
Hum Immunol ; 84(4): 290-295, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36858916

RESUMO

Celiac disease is strongly associated with HLA DQ, specifically with haplotypes. DRB1*03-DQA1*05:01/DQB1*02:01 (DQ2.5),DRB1*07-DQA1*02:01/DQB1*02:02 (DQ2.2), DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), and DRB1*04-DQA1*03:01/DQB1*03:02 (DQ8). The distribution of these risk haplotypes in patients with celiac disease is different in the geographical areas investigated. A high frequency of DRB1*07- DQA1*02:01/DQB1*02:02 (DQ2.2) and DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), has been described in Southern Europe. We analyzed 2102 confirmed CD cases with information on both DQB1* alelles and their distribution by geographical area in Spain. According to the presence of this haplotype in one or two chromosomes, the genotype is classified in: DQ2 homozygous, DQ2 heterozygous (cis or trans), DQ8 homozygous, DQ8/DQ2.5, DQ 2.2 homozygous and genotype known as "half DQ2". Two different patterns of risks related to CD were identified. In the Basque Country and Navarre, the Mediterranean Area (Aragon, Catalonia, Valencia, Balearic Islands, and Murcia), the South of Spain (Andalucía and Extremadura), and the Canary Islands, higher frequency of DQ2.5 trans, and more than 80% of DQ2.5/DQ2.2 homozygosis were described. The Cantabrian Coast (Cantabria, Asturias, and Galicia) and Central Areas (Castilla-León and Castilla-La Mancha) showed a higher percentage of DQ2.5/DQ2.5 homozygosis and a lower DQ2.5 in trans frequency, as in Northern Europe. Madrid has an intermediate model between the two described above. 17 cases (0.8%) did not carry any CD risk haplotypes.


Assuntos
Doença Celíaca , Antígenos HLA-DQ , Humanos , Criança , Espanha/epidemiologia , Antígenos HLA-DQ/genética , Doença Celíaca/genética , Predisposição Genética para Doença , Alelos , Genótipo , Haplótipos , Cadeias beta de HLA-DQ/genética , Cadeias alfa de HLA-DQ/genética
7.
Endosc Int Open ; 10(10): E1371-E1379, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36262519

RESUMO

Background and study aims The ability to perform endoscopy procedures safely and effectively is a key aspect of quality clinical care in Pediatric Gastroenterology, Hepatology and Nutrition (PGHN). The aim of this survey, which was part of a global survey on PGHN training in Europe, was to assess endoscopy training opportunities provided across Europe. Methods Responses to standardized questions related to endoscopy training were collected from training centers across Europe through the presidents/representatives of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition National Societies from June 2016 to December 2019. Results A total of 100 training centers from 19 countries participated in the survey. In 57 centers, the endoscopy suit was attached to the PGHN center, while in 23, pediatric endoscopies were performed in adult endoscopy facilities. Ninety percent of centers reported the availability of specialized endoscopy nurses and 96 % of pediatric anesthetists. Pediatric endoscopies were performed by PGHN specialists in 55 centers, while 31 centers reported the involvement of an adult endoscopist and 14 of a pediatric surgeon. Dividing the number of procedures performed at the training center by the number of trainees, ≤ 20 upper, lower, or therapeutic endoscopies per trainee per year were reported by 0 %, 23 %, and 56 % of centers, respectively, whereas ≤ 5 wireless capsule endoscopies per trainee per year by 75 %. Only one country (United Kingdom) required separate certification of competency in endoscopy. Conclusions Differences and deficiencies in infrastructure, staffing, and procedural volume, as well as in endoscopy competency assessment and certification, were identified among European PGHN training centers limiting training opportunities in pediatric endoscopy.

8.
Int J Mol Sci ; 23(16)2022 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-36012761

RESUMO

Pathogenic hemizygous or heterozygous mutations in the IQSEC2 gene cause X-linked intellectual developmental disorder-1 (XLID1), characterized by a variable phenotype including developmental delay, intellectual disability, epilepsy, hypotonia, autism, microcephaly and stereotypies. It affects both males and females typically through loss of function in males and haploinsufficiency in heterozygous females. Females are generally less affected than males. Two novel unrelated cases, one male and one female, with de novo IQSEC2 variants were detected by trio-based whole exome sequencing. The female case had a previously undescribed frameshift mutation (NM_001111125:c.3300dup; p.Met1101Tyrfs*5), and the male showed an intronic variant in intron 6, with a previously unknown effect (NM_001111125:c.2459+21C>T). IQSEC2 gene expression study revealed that this intronic variant created an alternative donor splicing site and an aberrant product, with the inclusion of 19bp, confirming the pathogenic effect of the intron variant. Moreover, a strong reduction in the expression of the long, but also the short IQSEC2 isoforms, was detected in the male correlating with a more severe phenotype, while the female case showed no decreased expression of the short isoform, and milder effects of the disease. This suggests that the abnormal expression levels of the different IQSEC2 transcripts could be implicated in the severity of disease manifestations.


Assuntos
Fatores de Troca do Nucleotídeo Guanina , Deficiência Intelectual , Transtornos do Neurodesenvolvimento , Feminino , Fatores de Troca do Nucleotídeo Guanina/genética , Fatores de Troca do Nucleotídeo Guanina/metabolismo , Humanos , Deficiência Intelectual/genética , Masculino , Mutação , Transtornos do Neurodesenvolvimento/genética , Linhagem , Fenótipo , Isoformas de Proteínas/genética , Sequenciamento do Exoma
9.
Ann Gastroenterol ; 35(3): 325-332, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35599925

RESUMO

Background: Pediatric gastrointestinal motility disorders present significant challenges for diagnosis and management, emphasizing the need for appropriate training in Pediatric Neurogastroenterology and Motility (PNGM). The aim of this survey, part of a comprehensive survey on training in pediatric gastroenterology, hepatology and nutrition, was to evaluate training related to PNGM across European training centers. Method: Standardized questionnaires were collected from training centers through the National Societies Network of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN), from June 2016 to December 2019. Results: In total, 100 training centers from 19 countries participated in the survey. Dedicated PNGM clinics were available in 22 centers; pH-monitoring in 60; pH/impedance in 66; standard manometry in 37; and high-resolution manometry in 33. If all motility studies were performed partially or fully by the trainees, the median (range) annual numbers/per trainee were as follows: pH-monitoring 30 (1-500); pH/impedance 17 (1-131); standard manometries 10 (1-150); and high-resolution manometries 8 (1-75). The motility assessment was performed by pediatric gastroenterologists (43 centers); adult gastroenterologists (10 centers); pediatric surgeons (5 centers); and both pediatric gastroenterologists and pediatric surgeons (9 centers). Annual numbers ≤10 for pH-monitoring, pH/impedance, standard manometries and high-resolution manometries were reported by 7 (12%), 15 (23%), 11 (30%) and 14 (42%) centers, respectively. Conclusions: Significant differences exist in PNGM-related infrastructure, staff and procedural volumes at training centers across Europe. ESPGHAN and the National Societies should take initiatives to ensure the acquisition of competence in PNGM-related knowledge and skills, and develop strategies for assessment and accreditation.An infographic is available for this article at: http://www.annalsgastro.gr/files/journals/1/earlyview/2022/Infographic-AG6486.pdf.

10.
Ann Gastroenterol ; 35(3): 317-324, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35599923

RESUMO

Background: This survey evaluated the effects of the recognition of pediatric gastroenterology, hepatology and nutrition (PGHN) on European PGHN training centers. Method: Standardized questionnaires were collected from training centers via the presidents/representatives of the National Societies Network of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition, from June 2016 to December 2019. Results: A total of 100 training centers from 19 countries participated in the survey: 55 from 12 countries where PGHN is formally recognized (Group 1) and 45 from 7 countries where it is not (Group 2). Training centers in Group 2 were less likely to have an integrated endoscopy suite, a written training curriculum and a training lead (P=0.059, P<0.001 and P=0.012, respectively). Trainees in Group 2 were less likely to be exposed to an adequate number of diagnostic endoscopies, while no differences were found in relation to liver biopsies. Half of the training centers in both Groups do not have dedicated beds for PGHN patients, while in 64% and 58%, respectively, trainees do not participate in on-call programs for PGHN emergencies. Research training is mandatory in 26% of the centers. The duration of training, as well as the assessment and accreditation policies, vary between countries. Conclusions: This study has revealed significant discrepancies and gaps in infrastructure and training programs, training leadership, and assessment of training and certification across European training centers in PGHN. Strategies to support the recognition of PGHN and to standardize and improve training conditions should be developed and implemented.An infographic is available for this article at: http://www.annalsgastro.gr/files/journals/1/earlyview/2022/Infographic_AG-6496.pdf.

11.
Ann Gastroenterol ; 35(2): 187-193, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35479583

RESUMO

Background: The widely recognized burden of liver diseases makes training in pediatric hepatology (PH) imperative. The aim of this survey, which was part of a global survey on training in pediatric gastroenterology, hepatology and nutrition (PGHN) across Europe, was to assess the PH and liver transplantation (LT) infrastructure, staff and training programs in PGHN training centers. Method: Standardized questionnaires were collected from training centers via the presidents/representatives of the National Societies Network of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) from June 2016 to December 2019. Results: A total of 100 PGHN training centers participated in the survey (14/100 were national referral centers in PH and/or LT). Dedicated PH clinics were available in 75%, but LT clinics in only 11%. Dedicated beds for PGHN inpatients were available in 47/95 (49%) centers. Full-time or part-time specialists for PH care were available in 31/45 (69%) and 11/36 (31%) centers, respectively. Liver biopsies (LB) were performed in 93% of centers by: a PGHN specialist (35%); an interventional radiologist (26%); a pediatric surgeon (4%); or a combination of them (35%). Dividing the annual number of LBs in the centers performing LBs by the number of trainees gave a median (range) of 10 (1-125) per trainee. Transient elastography was available in 60/92 (65%) of centers. Conclusions: The survey highlighted the differences and shortcomings in PH training across Europe. ESPGHAN should take initiatives together with National Societies to ensure the acquisition of PH knowledge and skills according to the ESPGHAN curriculum.An infographic is available for this article at: http://www.annalsgastro.gr/files/journals/1/earlyview/2022/Infographic-Hepatology-training-paper.pdf.

12.
J Pediatr Gastroenterol Nutr ; 74(5): 662-667, 2022 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-35135959

RESUMO

OBJECTIVES/BACKGROUND: Disease-related malnutrition is common in patients with chronic diseases and has detrimental effects, therefore, skills in nutrition care are essential core competencies for paediatric digestive medicine. The aim of this survey, conducted as part of a global survey of paediatric gastroenterology, hepatology and nutrition (PGHN) training in Europe, was to assess nutrition care-related infrastructure, staff, and patient volumes in European PGHN training centres. METHODS: Standardized questionnaires related to clinical nutrition (CN) care were completed by representatives of European PGHN training centres between June 2016 and December 2019. RESULTS: One hundred training centres from 17 European countries, Turkey, and Israel participated in the survey. Dedicated CN clinics exist in 66% of the centres, with fulltime and part-time CN specialists in 66% and 42%, respectively. Home tube feeding (HTF) andhome parenteral nutrition (HPN) programmes are in place in 95% and 77% of centres, respectively. Twenty-four percent of centres do not have a dedicated dietitian and 55% do not have a dedicated pharmacist attached to the training centre. Even the largest centres with >5000 outpatients reported that 25% and 50%, respectively do not have a dedicated dietitian or pharmacist. Low patient numbers on HTF and HPN of <5 annually are reported by 13% and 43% of centres, respectively. CONCLUSIONS: The survey shows clear differences and deficits in Clinical Nutrition training infrastructure, including staff and patient volumes, in European PGHN training centres, leading to large differences and limitations in training opportunities in Clinical Nutrition.


Assuntos
Gastroenterologia , Criança , Fenômenos Fisiológicos da Nutrição Infantil , Europa (Continente) , Gastroenterologia/educação , Humanos , Sociedades Médicas , Inquéritos e Questionários
13.
Clin Gastroenterol Hepatol ; 19(10): 2046-2053.e2, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-32798708

RESUMO

BACKGROUND & AIMS: Based on histologic features, variants in STAT6 are associated with a poor initial response to proton pump inhibitor (PPI) therapy in pediatric patients with eosinophilic esophagitis (EoE). We investigated whether these genetic variants are associated with a poor long-term response in children with EoE who initially responded to PPI therapy. METHODS: We performed a prospective longitudinal cohort study of children ages 2 to 16 years who met the diagnostic criteria for EoE (≥15 eosinophils/high-power field [eos/hpf]), responded to 8 weeks of treatment with 2 mg/kg/d PPI (<15 eos/hpf), and whose dose then was reduced to 1 mg/kg/d PPI (maintenance therapy) for 1 year, at which point biopsy specimens were collected by endoscopy. Genomic DNA was isolated from formalin-fixed paraffin-embedded biopsy tissue and was genotyped for variants of STAT6. Remission of inflammation was assessed at eos/hpf thresholds of <15 and ≤5. RESULTS: Among 73 patients who received 1 mg/kg/d PPI maintenance therapy for 1 year, 13 patients (18%) had 6 to 14 eos/hpf, 36 patients (49%) had 5 or fewer eos/hpf, and 24 patients (33%) relapsed to EoE (≥15 eos/hpf). Carriage of any of 3 STAT6 variants in linkage disequilibrium (r2 ≥0.8; rs324011, rs167769, or rs12368672) was associated with a 2.3- to 2.8-fold increase in the odds of EoE relapse, and with a 2.8- to 4.1-fold increase in the odds of having 6 to 14 eos/hpf. For rs324011, the odds ratio [95% CI] for relapse was 2.77 [1.11, 6.92]; P = .029, and the odds ratio [95% CI] for having 6 to 14 eos/hpf was 3.06 [1.27, 7.36]; P = .012. CONCLUSIONS: Pediatric EoE patients who initially respond to PPI therapy and carry STAT6 variants rs324011, rs167769, or rs12368672 are at increased risk of relapse after 1 year of PPI maintenance therapy.


Assuntos
Esofagite Eosinofílica , Inibidores da Bomba de Prótons , Adolescente , Criança , Pré-Escolar , Esofagite Eosinofílica/tratamento farmacológico , Esofagite Eosinofílica/genética , Humanos , Estudos Longitudinais , Estudos Prospectivos , Inibidores da Bomba de Prótons/uso terapêutico , Recidiva , Fator de Transcrição STAT6/genética
14.
Am J Med Genet A ; 185(3): 877-883, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33346930

RESUMO

Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions and mutations, has been recurrently involved in syndromic forms of developmental delay and intellectual disability, known as AUTS2 syndrome. The AUTS2 gene plays an important role in regulation of neuronal migration, and when altered, associates with a variable phenotype from severely to mildly affected patients. The more severe phenotypes significantly correlate with the presence of defects affecting the C-terminus part of the gene. This article reports a new patient with a syndromic neurodevelopmental disorder, who presents a deletion of 30 nucleotides in the exon 9 of the AUTS2 gene. Importantly, this deletion includes the transcription start site for the AUTS2 short transcript isoform, which has an important role in brain development. Gene expression analysis of AUTS2 full-length and short isoforms revealed that the deletion found in this patient causes a remarkable reduction in the expression level, not only of the short isoform, but also of the full AUTS2 transcripts. This report adds more evidence for the role of mutated AUTS2 short transcripts in the development of a severe phenotype in the AUTS2 syndrome.


Assuntos
Proteínas do Citoesqueleto/genética , Éxons/genética , Transtornos do Neurodesenvolvimento/genética , Deleção de Sequência , Fatores de Transcrição/genética , Sítio de Iniciação de Transcrição , Pré-Escolar , Proteínas do Citoesqueleto/biossíntese , Proteínas do Citoesqueleto/deficiência , Nanismo/genética , Regulação da Expressão Gênica , Estudos de Associação Genética , Humanos , Masculino , Isoformas de Proteínas/biossíntese , Isoformas de Proteínas/genética , RNA Mensageiro/biossíntese , RNA Mensageiro/genética , Síndrome , Fatores de Transcrição/biossíntese , Fatores de Transcrição/deficiência , Transcrição Gênica
15.
J Pediatr Gastroenterol Nutr ; 71(6): 755-763, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33003164

RESUMO

OBJECTIVES: Eosinophilic esophagitis (EoE) is a chronic esophageal disease characterized by eosinophilic inflammation. Proton-pump inhibitors (PPI) induce disease remission but no predictive factors of PPI-responsiveness have been identified yet. So, a biomarker must be found to differentiate between responders (PPI-R) and nonresponder patients (PPI-NR) to PPI. Aims were to identify any molecular biomarker that could predict PPI responsiveness and to study molecular remission after PPI therapy. METHODS: This prospective study enrolled 39 controls and 43 pediatric children with EoE from 2 hospitals, and they were treated with esomeprazole for 8 to 12 weeks. After therapy, patients were classified as either PPI-R or PPI-NR. Biopsies were collected and RNA, microRNAs, and proteins were isolated from them, measuring levels by qPCR and Western blot (WB). Also, miRNAs were evaluated in serum. RESULTS: We found several esophageal miRNAs with different expression values between PPI-R and PPI-NR children, which can be used to discriminate them (area under curve = 0.90). No useful serum miRNAs were, however, identified. Also, these miRNAs were dysregulated in responder patients before and after PPI therapy. Moreover, we corroborated in this child population, that PPI-R displayed a significant decrease in eotaxin-3, IL-5, IL-13, periostin, and major basic protein (P < 0.05) and a significant increase in filaggrin levels after PPI treatment (P < 0.01). CONCLUSIONS: Esophageal miRNA levels found are able to discriminate between both PPI-R and PPI-NR at baseline, and before and after treatment in PPI-R, so they could be used as biomarkers. Furthermore, we observed clinical and esophageal molecular restoration in PPI-R patients after PPI therapy.


Assuntos
Esofagite Eosinofílica , MicroRNAs , Inibidores da Bomba de Prótons , Biomarcadores/análise , Criança , Esofagite Eosinofílica/tratamento farmacológico , Esofagite Eosinofílica/genética , Proteínas Filagrinas , Humanos , Masculino , MicroRNAs/metabolismo , Estudos Prospectivos , Inibidores da Bomba de Prótons/uso terapêutico
16.
Nutr Hosp ; 37(4): 698-706, 2020 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-32698596

RESUMO

Introduction: Introduction: human milk oligosaccharides (HMOs) are an important component of human milk supporting the development of a balanced intestinal microbiota and immune protection in breastfed infants. Randomized controlled trials (RCTs) have demonstrated that infant formulas supplemented with the HMOs 2'-fucosyllactose (2'FL) and lacto-N-neotetraose (LNnT) are safe, well-tolerated, and support normal growth. This Real-World Evidence (RWE) study aimed to evaluate growth and tolerance in infants consuming a formula supplemented with 1 g/L of 2'FL and 0.5 g/L of LNnT, and included a mixed-feeding group never studied before in RCTs. Participants and methods: this open-label, prospective study was conducted at six centers in Spain, and included healthy, exclusively breastfed infants (BF group), an exclusively formula-fed group (FF) who received a milk-based formula with 2' FL and LNnT, and a group mixed fed with both formula and human milk (MF), for 8 weeks. Co-primary outcomes were growth (anthropometry) and gastrointestinal tolerance (Infant Gastrointestinal Symptom Questionnaire, IGSQ). Secondary outcomes included formula satisfaction and adverse events (AEs). Results: 159 infants completed the study (66 FF, 48 MF, and 45 BF). Mean z-scores for growth were similar between all groups and within ± 0.5 of WHO medians at week 8. Composite IGSQ scores demonstrated low GI distress in all groups, with no significant group differences at baseline, week 4, or week 8. Incidence of AEs was low overall, and comparable across groups. Conclusions: in this RWE study examining a HMO-supplemented infant formula, growth and tolerance outcomes were similar to RCT findings, supporting the effectiveness of this early feeding option.


Introducción: Introducción: los oligosacáridos de la leche materna (HMO) contribuyen a desarrollar la inmunoprotección y la microbiota intestinal. Los ensayos aleatorizados (RCT) han demostrado que las fórmulas enriquecidas con 2'fucosilactosa (2'FL) y lacto-N-neotetraosa (LNnT) son seguras, bien toleradas y favorecen el crecimiento. El objetivo de este estudio ha sido valorar el crecimiento, la seguridad y la tolerancia digestiva en lactantes alimentados con una fórmula enriquecida con 1 g/L de 2'FL y 0,5 g/L de LNnT, con datos de la vida real (RWE), incluyendo un grupo de alimentación mixta no estudiado antes en los RCT. Participantes y métodos: estudio prospectivo abierto en seis hospitales españoles que incluyó lactantes sanos alimentados con leche materna (BF), con fórmula enriquecida en 2'FL y LNnT (FF) o con mezcla de ambas (MF), durante ocho semanas. Se valoraron el crecimiento (antropometría), la tolerancia gastrointestinal (cuestionario IGSQ) y los acontecimientos adversos. Resultados: 159 lactantes completaron el estudio (66, 48 y 45, en los grupos FF, MF y BF, respectivamente). Las puntuaciones Z antropométricas a la semana 8 fueron similares entre los grupos y se hallaron dentro del rango de ± 0,5 de la normalidad. Las puntuaciones IGSQ compuestas mostraron un bajo malestar digestivo, sin diferencias significativas entre los grupos, al inicio y en las semanas 4 y 8. La incidencia de eventos adversos fue baja y comparable entre los grupos. Conclusiones: en este estudio RWE que evaluó una fórmula para lactantes enriquecida en HMO, los resultados sobre el crecimiento, la tolerancia y la seguridad fueron similares a los obtenidos en los RCT, respaldando su eficacia como alimentación temprana opcional.


Assuntos
Fórmulas Infantis/química , Oligossacarídeos/administração & dosagem , Trissacarídeos/administração & dosagem , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Leite Humano/química , Oligossacarídeos/análise , Estudos Prospectivos , Trissacarídeos/análise
17.
Health Qual Life Outcomes ; 18(1): 250, 2020 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-32711513

RESUMO

BACKGROUND: We aimed to compare the perception of health-related quality of life (HRQOL) and related factors in Spanish coeliac children and their parents, using two questionnaires, the generic KIDSCREEN-52 and the specific the Celiac Disease DUX (CDDUX), and to assess the correlation between them. METHODS: Coeliac children, aged 8-18, who are members of the Madrid Coeliac Association (MCA) and their parents, answered the Spanish version of the CDDUX and KIDSCREEN-52 questionnaires via e-mail. CDDUX was answered by 266 children and 428 parents and KIDSCREEN-52 by 255 children and 387 parents. Linear regression models were fitted to evaluate the association of demographic and clinical factors with HRQOL scores. CDDUX scores were compared with the subjective perception of health status assessed by the first question of KIDSCREEN-52. The correlation between the questionnaires was analysed. RESULTS: We found that the main factors that negatively affected HRQOL were having social or economic difficulties associated with following the diet and having transgression-related symptoms. The maximum correlation between the questionnaires was 0.309 and - 0.254 in parents and children respectively. CONCLUSIONS: Although there is a poor correlation between the two questionnaires, both agreed that the main concerns of the respondents were related to the social and economic difficulties of following the diet. It would be interesting to use both types of questionnaires in order to perform a more complete assessment of HRQOL in coeliac children. TRIAL REGISTRATION: Not applicable.


Assuntos
Doença Celíaca/psicologia , Qualidade de Vida , Inquéritos e Questionários/normas , Adolescente , Doença Celíaca/dietoterapia , Criança , Dieta Livre de Glúten/psicologia , Feminino , Humanos , Masculino , Pais/psicologia , Espanha
18.
J Pediatr Gastroenterol Nutr ; 69(5): 581-587, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31490856

RESUMO

OBJECTIVE: Proton pump inhibitors (PPIs) are an effective treatment for eosinophilic esophagitis (EoE); however, only 30% to 60% of patients respond. Common genetic variants in CYP2C19 and STAT6 associate with PPI plasma concentration and magnitude of inflammatory response, respectively. Our objective was to determine if genetic variation in the genes for CYP2C19 and STAT6 influence differentiation between PPI responsive esophageal eosinophilia versus PPI nonresponsive EoE (PPI-REE, PPI-nonresponsive EoE). METHODS: Genomic DNA was isolated from 92 esophageal tissue biopsies collected from participants of a prospective clinical trial of high-dose PPI therapy for esophageal eosinophilia in children. RESULTS: Of the 92 patients examined, 57 (62%) were PPI-REE and 35 (38%) were PPI-nonresponsive EoE. Forty-six of the 92 patients were further characterized by pH probe monitoring; there was no association between reflux index and carriage of CYP2C1917 (P = 0.35). In children who received a PPI dose between ≥1.54 and ≤2.05 mg/kg/day, binary logistic regression modeling showed that carriage of CYP2C1917 associated with PPI-nonresponsive EoE (odds ratio (OR) [95% confidence interval (CI)] = 7.71 [1.21, 49.11], P = 0.031). Carriage of STAT6 allelic variant rs1059513 predicts PPI-REE (OR [95% CI] = 6.16 [1.44, 26.4], P = 0.028), whereas carriage of STAT6 rs324011 synergizes with CYP2C1917 to predict PPI-nonresponsive EoE (rs324011 OR [95% CI] = 5.56 [1.33, 20.72], P = 0.022; CYP2C1917 OR [95% CI] = 8.19[1.42, 50.57], P = 0.023). CONCLUSIONS: Common variants in CYP2C19 and STAT6 associate with a PPI-nonresponsive EoE outcome of PPI therapy for esophageal eosinophilia suggesting that response rates may be improved by adopting a genotype-guided approach to PPI dosing.


Assuntos
Citocromo P-450 CYP2C19/genética , Esofagite Eosinofílica/tratamento farmacológico , Inibidores da Bomba de Prótons/uso terapêutico , Fator de Transcrição STAT6/genética , Adolescente , Criança , Pré-Escolar , Esofagite Eosinofílica/genética , Monitoramento do pH Esofágico , Feminino , Humanos , Masculino , Estudos Prospectivos , Inibidores da Bomba de Prótons/administração & dosagem , Resultado do Tratamento
19.
Aliment Pharmacol Ther ; 49(12): 1484-1492, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31074004

RESUMO

BACKGROUND: Treatment for coeliac disease is a lifelong strict gluten-free diet. Although guidelines recommend regular follow-up with dietary interviews and coeliac serology, these methods may be inaccurate. AIM: To evaluate the usefulness of faecal gluten immunogenic peptides to support the diagnosis and to determine the adherence to the gluten-free diet in coeliac children. METHODS: Multicentre prospective observational study including 64 coeliac children. Faecal gluten peptides, and tissue transglutaminase and deamidated gliadin peptide antibodies were analyzed at diagnosis, and 6, 12 and 24 months thereafter. Gluten consumption was estimated from gluten peptide levels. RESULTS: Most children (97%) had detectable gluten peptides at diagnosis. On a gluten-free diet, the rate of gluten peptides increased from 13% at 6 months to 25% at 24 months. Mean estimated gluten exposure dropped from 5543 mg/d at diagnosis to 144 mg/d at 6 months, then increased to 606 mg/d by 24 months. In contrast, deamidated gliadin peptide antibodies normalised and only 20% had elevated tissue transglutaminase antibody by 24 months. The elevation of tissue transglutaminase antibody was more prolonged in patients with detectable gluten peptides (P < 0.05). Nevertheless, absolute levels of tissue transglutaminase antibody had low sensitivity to identify patients with detectable gluten peptides (P > 0.1). Dietitian assessment was only moderately correlated with gluten peptide detection (κ = 0.5). CONCLUSIONS: Faecal gluten peptides testing may guide treatment of coeliac disease prior to diagnosis and during the assessment diet adherence. Further studies could determine if early identification of gluten exposure reduces the need for expensive/invasive investigations for non-responsive coeliac disease. ClinicalTrials.gov Number: NCT02711397.


Assuntos
Doença Celíaca/metabolismo , Fezes/química , Glutens/química , Peptídeos/análise , Adolescente , Anticorpos/sangue , Doença Celíaca/dietoterapia , Criança , Pré-Escolar , Dieta Livre de Glúten , Feminino , Humanos , Lactente , Masculino , Peptídeos/imunologia , Transglutaminases/imunologia
20.
Eur J Pediatr ; 177(10): 1515-1522, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30014304

RESUMO

The aim of this study is to assess the impact of coeliac disease (CD) on health-related quality of life (HRQOL) using the generic KIDSCREEN-52 questionnaire in a group of Spanish children aged 8-18 years and their parents. For this cross-sectional study, coeliac children in the targeted age range, who are members of the Madrid Coeliac Association (MCA), were invited to participate. The Spanish version of the generic KIDSCREEN-52 questionnaire was administered via e-mail. Scores (on a scale from 1 to 100) were expressed as the mean and standard deviation (SD). Demographic and clinical variables related to HRQOL were also assessed. The questionnaire was completed by 434 children and/or their parents. Respondents gave scores of over 50 to seven quality of life domains. Mean scores were significantly higher in children than in their parents for six out of ten domains. In contrast, parents awarded significantly higher scores to the "social support and peers" domain than children did. Significantly lower QOL scores were reported by girls, children aged 16-18 years, children older than 7 years at the time of CD diagnosis, and respondents who did not adhere to the prescribed diet or had difficulty in doing so. CONCLUSION: Overall, the KIDSCREEN-52 questionnaire revealed that CD had no substantial negative impacts on the children's QOL. However, some concerns from the children's perspective were identified, such as issues regarding relationships with their peers. These issues will need to be addressed in order to improve QOL in children with CD. What is Known: • According to the Spanish version of the specific CDDUX, parents and children felt CD had no substantial negative impacts on their HRQOL. What is New: • According to the generic KIDSCREEN-52 questionnaire, QOL in Spanish coeliac children does not seem to be negatively affected by the disease in most general aspects of life. • Parents have a worse perception of their children's HRQOL than their children themselves.


Assuntos
Doença Celíaca/psicologia , Qualidade de Vida/psicologia , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Idioma , Masculino , Pais , Índice de Gravidade de Doença , Apoio Social , Espanha , Inquéritos e Questionários
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