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Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Genes Dis
March 2025
Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Extremely Rare Case of Successful Treatment of Foot Ulcer Associated with Evans' Syndrome and Buerger's Disease.
Medicina (Kaunas)
July 2024
Department of Plastic and Reconstructive Surgery, Soonchunhyang University Cheonan Hospital, Cheonan 31538, Republic of Korea.
Evans Syndrome (ES) is a rare autoimmune disorder characterized by the simultaneous occurrence of immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AIHA). Thrombotic complications in ES patients are uncommon, particularly involving Buerger's Disease (BD). We report a case of a 49-year-old male with ES and a history of diabetes and heavy smoking, presenting with a necrotic wound on his right great toe.
View Article and Find Full Text PDFPhenotypic quantification of Nphs1-deficient mice.
J Nephrol
July 2024
Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA.
Background: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease in children and young adults. The most severe form of steroid-resistant nephrotic syndrome is congenital nephrotic syndrome Finnish type (CNSF), caused by biallelic loss-of-function variants in NPHS1, encoding nephrin. Since each of the 68 monogenic causes of steroid-resistant nephrotic syndrome represents a rare cause of the disease, tailoring therapeutic interventions to multiple molecular targets remains challenging, suggesting gene replacement therapy (GRT) as a viable alternative.
View Article and Find Full Text PDFQuantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.
Sci Rep
July 2024
Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Article Synopsis
- Steroid-resistant nephrotic syndrome (SRNS) is common in children and leads to chronic kidney disease, with congenital nephrotic syndrome of the Finnish type (CNF) being caused by mutations in the NPHS1 gene that affects kidney filtration.
- A mouse model (129/Sv-Nphs1/J) was used for a detailed assessment comparing homozygous (nephrin-deficient) and heterozygous controls, focusing on survival rates, podocyte density, tubular microcysts, and urinary protein levels.
- The results showed that the nephrin-deficient mice had very short survival times, significant structural kidney changes, and higher protein levels in urine, establishing important parameters for future studies on gene
The Effects of Antioxidant Supplementation on the Pathologic Mechanisms of Metabolic Syndrome and Cardiovascular Disease Development.
Nutrients
May 2024
VAS-European Independent Foundation in Angiology/Vascular Medicine, Via GB Grassi 74, 20157 Milan, Italy.
In people with obesity, diabetes, and hypertension, lipid and glucose metabolism and oxidative stress generation interact. This condition, known as a "metabolic syndrome" (MetS), presents a global challenge and appears to be the underlying mechanism for the development of cardiovascular diseases (CVDs). This review is designed based on evidence indicating the pathogenic mechanisms of MetS.
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