• Artificial intelligence in glomerular diseases

    13 days ago - By Springer

    Abstract
    In this narrative review, we focus on the application of artificial intelligence in the clinical history of patients with glomerular disease, digital pathology in kidney biopsy, renal ultrasonography imaging, and prediction of chronic kidney disease. With the development of natural language processing, the clinical history of a patient can be used to identify a computable phenotype. In kidney pathology, digital imaging has adopted innovative deep learning algorithms that can improve the predictive capability of the examined lesions. However, at this time, these applications can...
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  • Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

    13 days ago - By Springer

    Abstract
    Background
    Autosomal recessive polycystic kidney disease is a cystic kidney disease with early onset and clinically characterized by enlarged echogenic kidneys, hypertension, varying degrees of kidney dysfunction, and liver fibrosis. It is most frequently caused by sequence variants in the PKHD1 gene, encoding fibrocystin. In more rare cases, sequence variants in DZIP1L are seen, encoding the basal body protein DAZ interacting protein 1-like protein. So far, only four different DZIP1L variants have been reported.
    Methods
    Four children from three consanguineous families presenting...
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