Publications by authors named "Hannes Hoelz"
Persistent desmoglein-1 downregulation and periostin accumulation in histologic remission of eosinophilic esophagitis.
J Allergy Clin Immunol
February 2025
Article Synopsis
- Pediatric patients with eosinophilic esophagitis (EoE) can experience ongoing inflammation and symptoms even after histologic improvement, indicating deeper molecular issues.
- A study involving 247 esophageal biopsy samples identified persistent molecular changes in EoE, including 17 dysregulated genes and 6 proteins that remained altered even in inactive stages of the disease.
- The findings reveal that while some molecular markers normalize in deep remission, others, particularly periostin (POSTN), continue to be elevated, indicating a need for further understanding of EoE's molecular landscape for better treatment strategies.
Background: Limited approval of second-line treatments in pediatric inflammatory bowel disease (pIBD) necessitates optimized use of infliximab (IFX) with proactive therapeutic drug monitoring (TDM). We investigated whether early combo-therapy with an immunomodulator (IMM) provides additional benefit.
Methods: In the retrospectively reviewed medical records of all children treated with IFX and proactive TDM between 2013 and 2022, IMMearly (IMM ≤3 months since IFX start) was evaluated against IMMother/no (late/short or no IMM) over follow-up of 3 to 60 months.
Article Synopsis
- Exclusive enteral nutrition (EEN) is effective at inducing remission in pediatric Crohn's disease but leads to high relapse rates once regular diets are resumed.
- The study involved collecting fecal samples from pediatric patients on EEN, which were processed into FMT capsules after pathogen safety screening.
- Results showed that while FMT capsule generation was mostly successful, issues like a high pathogen burden and low microbial diversity in the samples suggest that using this method for long-term maintenance therapy in pediatric Crohn's disease may not be feasible.
Do Not Miss Acute Diffuse Panbronchiolitis for Tree-in-Bud: Case Series of a Rare Lung Disease.
Diagnostics (Basel)
July 2022
Acute bronchiolitis is a common disease of infants affecting the small airways. Rarely, acute bronchiolitis may occur in adolescents and adults. Here, we present four unrelated adolescent patients with severe clinical presentation and unique CT imaging with extensive tree-in-bud pattern, representing a rare clinical phenotype of acute diffuse panbronchiolitis.
View Article and Find Full Text PDFNext Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.
Neuropediatrics
April 2021
Introduction: Next generation sequencing (NGS) with customized gene panels is a helpful tool to identify monogenic epilepsy syndromes. The number of genes tested within a customized panel may vary greatly. The aim of the present study was to compare the diagnostic yield of small (<25 kb) and large (>25 kb) customized epilepsy panels.
View Article and Find Full Text PDFArticle Synopsis
- - Next-generation sequencing (NGS) techniques enable efficient diagnosis of genetic conditions, like monogenic epilepsy syndromes, and can significantly influence treatment decisions for pediatric epilepsy patients by using specialized epilepsy panels.
- - A study conducted on 91 pediatric patients revealed that 18% received results categorized as "pathogenic" or "likely pathogenic," leading to changes in their clinical management, including adjustments in medication and reduction of unnecessary diagnostic procedures.
- - The findings suggest that NGS panels offer valuable insights for diagnosing and managing pediatric epilepsy, advocating for early adoption in clinical practice while emphasizing the need for larger studies to validate these results with more standardized testing approaches.
Tuberous sclerosis complex (TSC) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the TSC1 and TSC2 genes. Many patients present with West syndrome, a severe epilepsy syndrome characterized by the triad of infantile spasms, an interictal electroencephalogram (EEG) pattern termed hypsarrhythmia (continuous slow activity with an amplitude higher than 300 µV and multiregional spikes/polyspikes/sharp waves) and developmental regression. In this study, we report on a previously healthy patient with positive family history of epilepsy with new-onset epileptic encephalopathy at the age of 9 years.
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