Publications by authors named "K Yousef"
Article Synopsis
- Zenker's diverticulum peroral endoscopic myotomy (Z-POEM) with mucosal flap incision (MFI) shows high effectiveness for treating symptomatic Zenker's diverticulum, as reported in a study involving 36 patients across eight international centers.
- Clinical success was achieved in 97% of patients, with significant improvement in symptoms measured by the Kothari-Haber symptom score (KHSS).
- The procedure demonstrated a strong technical success rate, with only one minor adverse event, indicating it is a safe option for patients with this condition, although further prospective evaluations are necessary for larger diverticulums.
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.
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- 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