Some children with thin basement membranes (TBM) turn out to have Alport syndrome (AS). In our population of 58 children initially diagnosed with TBM, three were eventually diagnosed with AS. As a group, these three were first biopsied at a younger age, and had gross rather than microscopic hematuria. Only one had lamellations initially. Seven others had some degree of basement membrane lamellations at initial biopsy, but none of these have developed other features of AS. We concluded that at least 5% of children initially demonstrating TBM go on to manifest the classical electron-microscopic findings of AS during childhood. Episodes of gross hematuria with TBM can be a significant clue of AS. Genetic and/or immunofluorescent studies for type IV collagen, and continued long-term follow-up should be done in all children with TBM.
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http://dx.doi.org/10.1080/15513815.2016.1202362 | DOI Listing |
Kidney Med
December 2024
Division of Precision Medicine, NYU Grossman School of Medicine, New York City, NY.
Rationale & Objective: Diabetic kidney disease (DKD) is one of the leading causes of end-stage kidney disease globally. We aim to identify proteomic and metabolomic correlates of histologically confirmed DKD that may improve our understanding of its pathophysiology.
Study Design: A cross-sectional study.
J Am Soc Nephrol
December 2024
Department of Population Health Sciences, Geisinger, Danville, PA.
Background: Our knowledge of X-linked Alport Syndrome comes mostly from selected cohorts with more severe disease.
Methods: We examined the phenotypic spectrum of X-linked Alport Syndrome in males and females with a genotype-based approach using data from the Geisinger MyCode DiscovEHR study, an unselected health system-based cohort with exome sequencing and electronic health records. Patients with COL4A5 variants reported as pathogenic or likely pathogenic in ClinVar, or protein-truncating variants, were each matched with up to 5 controls without COL4A3/4/5 variants by sociodemographics, diabetes diagnosis, and year of first outpatient encounter.
ACS Appl Polym Mater
November 2024
IMEM-BRT's Group, Departament d'Enginyeria Química, EEBE, Universitat Politècnica de Catalunya, C/Eduard Maristany, 10-14, Ed. I, second floor, 08019, Barcelona, Spain.
This study investigates the potential of thermoresponsive hydrogels as innovative substrates for future in vitro diagnostic (IVD) applications using AVAC technology, developed and patented by the Mecwins biomedical company. In order to convert the hydrogel in a substrate compatible with AVAC technology, the following prerequisites were established: (1) the hydrogel layer needs to be permeable to gold nanoparticles (AuNPs), and (2) the optical properties of the hydrogel should not interfere with the detection of AuNPs with AVAC technology. These two key aspects are evaluated in this work.
View Article and Find Full Text PDFbioRxiv
December 2024
Department of Chemistry, University of Washington, Seattle, Washington, USA.
Renal glomeruli have traditionally been studied by micrometer-scale optical microscopy to interrogate overall physiology or molecular distributions and by nanoscale electron microscopy to interrogate the ultrastructure of thin sections. While these approaches are powerful, they have been limited in their ability to obtain detailed views of the glomeruli as holistic 3D functional units. To fill this knowledge gap, we have developed a novel pipeline for imaging, reconstructing, and analyzing whole mouse glomeruli at 100 nm resolution using super-resolution fluorescence microscopy.
View Article and Find Full Text PDFInt J Biol Macromol
December 2024
Biochemistry and Molecular Biology Unit, Department of Bioscience and Technology for Food, Agriculture and Environment, University of Teramo, Campus "Aurelio Saliceti" Via Renato Balzarini n. 1, 2, 64100 Teramo, Italy.
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