9 results match your criteria: "Children's Hospital Memmingen[Affiliation]"
Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c.
Kidney Int
January 2025
Department of Pediatric Kidney, Liver, Metabolic and Neurological Diseases, Hannover Medical School, Hannover, Germany. Electronic address:
Article Synopsis
- Pathogenic variants in the SLC34A1 and SLC34A3 genes, responsible for sodium-phosphate transport, lead to rare phosphate wasting conditions, primarily in children, with various clinical presentations and outcomes.
- A study analyzed data from 113 patients across 90 families, revealing distinct symptoms: SLC34A1 carriers mostly show issues in infancy, while SLC34A3 carriers experience symptoms into childhood and adulthood, including a significantly higher prevalence of chronic kidney disease in adulthood.
- Biochemical markers were similar for both groups, indicating some common underlying mechanisms, and phosphate treatment yielded partial improvements in certain enzyme levels but raised parathyroid hormone levels, suggesting a complex interaction between treatments and kidney function.
CCR3-dependent eosinophil recruitment is regulated by sialyltransferase ST3Gal-IV.
Proc Natl Acad Sci U S A
May 2024
Institute of Cardiovascular Physiology and Pathophysiology, Walter Brendel Center of Experimental Medicine, Ludwig-Maximilians-Universität München, PLanegg-Martinsried 82152, Germany.
Eosinophil recruitment is a pathological hallmark of many allergic and helminthic diseases. Here, we investigated chemokine receptor CCR3-induced eosinophil recruitment in sialyltransferase mice. We found a marked decrease in eosinophil extravasation into CCL11-stimulated cremaster muscles and into the inflamed peritoneal cavity of mice.
View Article and Find Full Text PDFEfficacy of probiotics to prevent gut dysbiosis in preterm infants of 28+0-32+6 weeks of gestation: a randomised, placebo-controlled, double-blind, multicentre trial: the PRIMAL Clinical Study protocol.
BMJ Open
November 2019
Department of Paediatrics, University of Lübeck, Lübeck, Germany
Introduction: The healthy 'eubiosis' microbiome in infancy is regarded as the microbiome derived from term, vaginally delivered, antibiotic free, breastfed infants at 4-6 months. Dysbiosis is regarded as a deviation from a healthy state with reduced microbial diversity and deficient capacity to control drug-resistant organisms. Preterm infants are highly sensitive to early gut dysbiosis.
View Article and Find Full Text PDFPresentation of pediatric Henoch-Schönlein purpura nephritis changes with age and renal histology depends on biopsy timing.
Pediatr Nephrol
February 2018
Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg Faculty of Medicine, University of Freiburg, Mathildenstrasse 1, 79106, Freiburg, Germany.
Background: This study correlates the clinical presentation of Henoch-Schönlein purpura nephritis (HSPN) with findings on initial renal biopsy.
Methods: Data from 202 pediatric patients enrolled in the HSPN registry of the German Society of Pediatric Nephrology reported by 26 centers between 2008 and 2014 were analyzed. All biopsy reports were re-evaluated for the presence of cellular crescents or chronic pathological lesions (fibrous crescents, glomerular sclerosis, tubular atrophy >5%, and interstitial fibrosis >5%).
Transition structures and timing of transfer from paediatric to adult-based care after kidney transplantation in Germany: a qualitative study.
BMJ Open
June 2017
Department of Paediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
Article Synopsis
- - The research investigates the transition process for adolescents and young adults with kidney transplants in Germany, focusing on the structures and timing of care transfers during this vulnerable phase.
- - An observational study involving healthcare professionals revealed a strong awareness of the importance of effective transitional care, with a consensus on key elements but challenges in daily implementation due to the lack of structured guidelines.
- - Professionals prefer a flexible, individualized approach to transitioning based on various factors, but they face difficulties due to strict age regulations set by health authorities.
Febrile urinary tract infection after pediatric kidney transplantation: a multicenter, prospective observational study.
Pediatr Nephrol
June 2016
Pediatric Nephrology, University Medical Center Jena, Kochstrasse 2, 07743, Jena, Germany.
Background: Febrile urinary tract infections (fUTIs) are common after kidney transplantation (KTx); however, prospective data in a multicenter pediatric cohort are lacking. We designed a prospective registry to record data on fUTI before and after pediatric KTx.
Methods: Ninety-eight children (58 boys and 40 girls) ≤ 18 years from 14 mid-European centers received a kidney transplant and completed a 2-year follow-up.
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease.
J Neurol Neurosurg Psychiatry
August 2016
Department of Pediatric Neurology, Children's Hospital Datteln, University Witten/Herdecke, Datteln, Germany.
Objective: To determine the frequency and clinical-radiological associations of antibodies to myelin oligodendrocyte glycoprotein (MOG) and aquaporin-4 (AQP4) in children presenting with neuromyelitis optica (NMO) and limited forms.
Methods: Children with a first event of NMO, recurrent (RON), bilateral ON (BON), longitudinally extensive transverse myelitis (LETM) or brainstem syndrome (BS) with a clinical follow-up of more than 12 months were enrolled. Serum samples were tested for MOG- and AQP4-antibodies using live cell-based assays.
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
PLoS One
January 2016
Bioscientia Center for Human Genetics, Ingelheim, Germany; Renal Division, Department of Medicine, University Freiburg Medical Center, Freiburg, Germany.
Renal cysts are clinically and genetically heterogeneous conditions. Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent life-threatening genetic disease and mainly caused by mutations in PKD1. The presence of six PKD1 pseudogenes and tremendous allelic heterogeneity make molecular genetic testing challenging requiring laborious locus-specific amplification.
View Article and Find Full Text PDFMutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Pediatr Nephrol
August 2014
Department of Pediatrics, Children's Hospital Memmingen, Memmingen, Germany.
Background: An emerging number of clinically and genetically heterogeneous diseases now collectively termed ciliopathies have been connected to the dysfunction of primary cilia. We describe an 8-year-old girl with a complex phenotype that did not clearly match any familiar syndrome.
Case-diagnosis/treatment: Hypotonia, facial dysmorphism and retardation were noted shortly after birth.