Publications by authors named "Joachim Schweizer"

Article Synopsis
  • The study aimed to see how well new guidelines for diagnosing celiac disease (CD) in kids were used in the Netherlands and how many children were diagnosed with it over the years.
  • From 2010 to 2013, doctors reported 1,107 new cases of CD, and after changing how diagnoses were made in 2012, fewer kids needed painful biopsies.
  • While more kids are being diagnosed with CD now than in previous years, many still go undiagnosed, and the way their symptoms show up is getting milder.
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Article Synopsis
  • Mid-upper arm circumference (MUAC) is identified as a valid measure for detecting overweight and obesity in children and adolescents, closely correlating with weight.
  • A study involving 6,167 Dutch children revealed that MUAC demonstrates comparable diagnostic accuracy to body mass index (BMI) with high sensitivity and specificity across different age and gender groups.
  • The findings suggest MUAC could serve as a reliable alternative to BMI for identifying weight status and propose the creation of international MUAC cut-off diagrams similar to those used for BMI.
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Objective: To evaluate the (cost-)effectiveness of online consultations in follow-up of patients with celiac disease (CD).

Study Design: Multicenter randomized, controlled trial involving 304 patients aged ≤25 years with CD for ≥1 year, randomized to an online (n = 156) or outpatient consultation (n = 148). An online consultation included questionnaires for symptom and growth measurement.

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Objectives: Iron deficiency (ID) in children with inflammatory bowel disease (IBD) is either an absolute (depleted iron stores) or a functional deficiency (caused by chronic inflammation). Differentiating between these 2 types of ID is important because they require a different therapeutic approach. Zinc protoporphyrin (ZPP) and red blood cell distribution width (RDW) are parameters of functional ID.

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Objective: To investigate whether implementation of a celiac disease (CD)-specific health-related quality of life (HRQOL) questionnaire would add value to CD follow-up visits; we compared patients' self-reported CD-specific HRQOL with the physician's report provided during a regular CD follow-up visit in children and young adults.

Methods: A cross-sectional study in the control group of a study on self-management in CD (CoelKids). Eligible patients had CD for ≥1 year and were 25 years or younger.

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Objective: To assess incidence and clinical course of Dutch patients with achalasia diagnosed before 18 years of age as well as their current symptoms and quality of life (QoL).

Study Design: Retrospective medical chart review and a cross-sectional study assessing current clinical status using the Eckardt score and reflux disease questionnaire. General QoL was measured using Kidscreen-52 for patients <18 years of age or to 36-Item Short Form Health Survey for patients ≥18 years of age.

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We presented the cases of three children with coeliac disease who despite good adherence to a glutenfree diet remained non-responsive to treatment. Two patients, one of them with IgA deficiency, were successfully treated by complete gluten exclusion with enteral nutrition. However the third child with a severe coeliac disease did not achieve clinical and histologic improvement, even on immunosuppressive treatment.

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Gluten-related disorders such as coeliac disease, wheat allergy and noncoeliac gluten sensitivity are increasingly being diagnosed in children. Coeliac disease occurs frequently, affecting 1-3% of the Western population. The condition manifests at a very young age, more so in girls, and is related to the HLA genotype.

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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.

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Celiac disease is a T cell-mediated disease induced by dietary gluten, a component of which is gliadin. 95% of individuals with celiac disease carry the HLA (human leukocyte antigen)-DQ2 locus. Here we determined the T-cell receptor (TCR) usage and fine specificity of patient-derived T-cell clones specific for two epitopes from wheat gliadin, DQ2.

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Article Synopsis
  • Steroid-nonresponsive acute graft-versus-host disease (aGVHD) is a serious condition that can happen after a stem cell transplant, and it usually has a bad outcome.
  • In this study with 22 kids who got treated with special cells called MSCs, many still had diarrhea, and tests showed that while some tissue damage was present, active aGVHD wasn't occurring.
  • The researchers found that while blood tests (biomarkers) can help track the illness, they aren't precise enough to predict how well MSC therapy will work, so they suggest using both biopsies and biomarkers for better results in treatment studies.
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Objectives: The aim of this study was to investigate whether protozoa can be identified as a cause of recurrent abdominal pain (RAP), and whether protozoan infections can be recognized by a specific clinical presentation.

Methods: For 2 years, all patients (ages 4-16 years) fulfilling the Apley criteria of RAP referred to secondary care were prospectively evaluated for protozoa (Giardia lamblia, Dientamoeba fragilis, Blastocystis hominis) and treated if positive. Re-examination followed at least 10 days after treatment.

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Because susceptibility to celiac disease is associated strongly with HLA-DQ2 (DQA1*05/DQB1*02) and weakly with HLA-DQ8 (DQA1*03/DQB1*03), a subset of patients carries both HLA-DQ2 and HLA-DQ8. As a result, these patients may express two types of mixed HLA-DQ2/8 transdimers (encoded by DQA1*05/DQB1*03 and DQA1*03/DQB1*02) in addition to HLA-DQ2 and HLA-DQ8. Using T cells from a celiac disease patient expressing HLA-DQ8trans (encoded by DQA*0501/DQB*0302), but neither HLA-DQ2 nor HLA-DQ8, we demonstrate that this transdimer is expressed on the cell surface and can present multiple gluten peptides to T cell clones isolated from the duodenum of this patient.

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Objective: Subfertility has been reported as a long-term complication of unrecognized and/or untreated coeliac disease (CD); however, the results from studies on this topic are ambiguous. We aimed to determine the prevalence of unrecognized CD in subfertile male-female couples visiting a fertility clinic compared with the general population.

Methods: Subjects included 1038 male-female couples (n = 2076) who visited the fertility clinic of the Leiden University Medical Center in the Netherlands between 2003 and 2009.

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We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome-wide significance (P(combined) < 5 x 10(-8)); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection.

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Objective: In the diagnosis of coeliac disease (CD), gluten challenge is recommended for children under the age of 2 years at initial biopsy. The aim of the study was to investigate the diagnostic yield of gluten challenge in this group of children.

Patients And Methods: We included children aged 2 years or younger who were analysed for possible CD and who had villous atrophy at initial small bowel biopsy in the period 1993-2004.

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Objective: Mass screening for celiac disease is controversial. The objective of this study was to determine whether detection of childhood celiac disease by mass screening improves long-term health status and health-related quality of life.

Methods: We conducted a prospective 10-year follow-up study of 32 children who were aged 2 to 4 years, had celiac disease identified by mass screening, and had a gluten-free diet (19) or a normal gluten-containing diet (13).

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A 4-year-old boy with persistent vomiting had a peptic stenosis of the oesophagus.

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Objective: Celiac disease (CD) is a multifactorial disease with a strong genetic association. It is caused by a T-cell-mediated immune response to wheat gluten. The treatment is a strict gluten-free diet (GFD).

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Background: Infliximab is effective for induction and maintenance of remission in Crohn's disease. It is unknown how long patients should be kept on infliximab therapy. The primary aim of this study was to assess duration of effective maintenance therapy and infliximab dependency in pediatric CD patients initially responding to infliximab therapy.

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Significant hyperbilirubinaemia, anemia, and splenomegaly are common features in patients with severe haemolysis due to pyruvate kinase (PK) deficiency. Until now, severe neonatal PK deficiency has not been associated with fatal liver disease at this age. We present two neonatal cases of severe PK deficiency complicated with progressive fatal liver disease.

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In western countries, when a child presents with recurrent oral ulcers and colitis, the diagnosis of Crohn's disease is mostly made. In our patient, the diagnosis was Behçet's disease with gastrointestinal manifestations. Behçet's disease with gastrointestinal manifestations has a similar clinical presentation to Crohn's disease, but there is more organ involvement and the prognosis is more severe in the former.

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Introduction: Coeliac disease (CD) is associated with an increased risk of non-Hodgkin lymphoma (NHL), but there is little information about whether this is true for clinically silent CD.

Objective: To investigate the frequency of CD in two European populations; one with NHL and another derived from the general population.

Methods: A prospective, multi-centre, case-control study in 10 European countries was conducted between May 1998 and April 2001.

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Objective: The purpose of this study was to describe the clinical experience with the anti-tumor necrosis factor chimeric monoclonal antibody, infliximab, in pediatric patients with Crohn disease in The Netherlands.

Design: Descriptive.

Methods: Clinical response and adverse effects of infliximab were recorded for pediatric patients with Crohn disease treated from October 1992 to January 2003.

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