Focal segmental glomerulosclerosis represents a finding in several renal disorders, characterized by proteinuria and sometimes by arterial hypertension and progressive decline in renal function. There are primary (idiopathic and familial) and secundary forms. In the last 20 years several familial cases has been reported, with a great genetic heterogeneity (dominant and recessive forms) and with multiple associations with particular MHC class-I and class-II gene loci, being Al, DR3 o DR7 the most frequently reported. We described three members of same family with focal segmental hyalinosis that shared the HLA haplotype A31 B61 DR13. This association has not been described previously. We highlight that genetic and acquired factors (obesity, hypertension...) could have importance in the development of progressive renal failure in these patients.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Transformers for Neuroimage Segmentation: Scoping Review.
J Med Internet Res
January 2025
Department of Computer Science and Software Engineering, United Arab Emirates University, Al Ain, United Arab Emirates.
Background: Neuroimaging segmentation is increasingly important for diagnosing and planning treatments for neurological diseases. Manual segmentation is time-consuming, apart from being prone to human error and variability. Transformers are a promising deep learning approach for automated medical image segmentation.
View Article and Find Full Text PDFChronic wounds, due to their high prevalence, are a serious global health concern. Effective therapeutic strategies can significantly accelerate healing, thereby reducing the risk of complications and alleviating the economic burden on healthcare systems. Although numerous experimental studies have investigated wound healing, most rely on qualitative observations or quantitative direct measurements.
View Article and Find Full Text PDFClinical follow-up of 2 families with glomerulopathy caused by gene variants and literature review.
Front Pediatr
January 2025
Department of Pediatric Nephrology, Children's Hospital of Hebei Province Affiliated to Hebei Medical University, Shijiazhuang, China.
Background: Primary coenzyme Q10 (CoQ10) deficiency is an autosomal recessive genetic disease caused by mitochondrial dysfunction. Variants in Coenzyme Q8B () can cause primary CoQ10 deficiency. -related glomerulopathy is a recently recognized glomerular disease that most often presents as steroid-resistant nephrotic syndrome (SRNS) in childhood.
View Article and Find Full Text PDFThis paper addresses the thermal instability of lasers resulting from the thermal effects of the 2 µm gain medium, proposing what we believe to be a novel compensation scheme that integrates machine learning technology with multi-segment bonded Tm: YAG crystals and negative lenses, based on the thermal focal length model of a thick thermal lens. This approach significantly optimizes thermal compensation and facilitates rapid assessment of the light-emitting behavior trends of Tm: YAG lasers. Firstly, the thermal behavior of conventional and multi-segment bonded Tm: YAG crystals is analyzed.
View Article and Find Full Text PDFF-FDG PET/CT radiomic analysis and artificial intelligence to predict pathological complete response after neoadjuvant chemotherapy in breast cancer patients.
Radiol Med
January 2025
Department of Translational Medicine, University of Ferrara, Ferrara, Italy.
Purpose: Build machine learning (ML) models able to predict pathological complete response (pCR) after neoadjuvant chemotherapy (NAC) in breast cancer (BC) patients based on conventional and radiomic signatures extracted from baseline [F]FDG PET/CT.
Material And Methods: Primary tumor and the most significant lymph node metastasis were manually segmented in baseline [F]FDG PET/CT of 52 newly diagnosed BC patients. Clinical parameters, NAC and conventional semiquantitative PET parameters were collected.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!