Publications by authors named "Max Brunkhorst"

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.
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Inflammatory bowel disease (IBD) is characterized by dysregulated intestinal immune responses. Using mass cytometry (CyTOF) to analyze the immune cell composition in the lamina propria (LP) of patients with ulcerative colitis (UC) and Crohn's disease (CD), we observed an enrichment of CD4 effector T cells producing IL-17A and TNF, CD8 T cells producing IFNγ, T regulatory (Treg) cells, and innate lymphoid cells (ILC). The function of these immune cells is regulated by store-operated Ca entry (SOCE), which results from the opening of Ca release-activated Ca (CRAC) channels formed by ORAI and STIM proteins.

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Despite the efficacy of neuroprotective approaches in animal models of stroke, their translation has so far failed from bench to bedside. One reason is presumed to be a low quality of preclinical study design, leading to bias and a low a priori power. In this study, we propose that the key read-out of experimental stroke studies, the volume of the ischemic damage as commonly measured by free-handed planimetry of TTC-stained brain sections, is subject to an unrecognized low inter-rater and test-retest reliability with strong implications for statistical power and bias.

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