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Variable treatment response to lumasiran in pediatric patients with primary hyperoxaluria type 1.
Pediatr Nephrol
January 2025
University Medical Center Hamburg-Eppendorf, University Children's Hospital, Martinistrasse 52, Hamburg, 20246, Germany.
Background: Primary hyperoxaluria type 1 (PH 1) is a rare genetic condition due to mutations in the AGXT gene. This leads to an overproduction of oxalate in the liver. Hyperoxaluria often causes kidney stones, nephrocalcinosis, and chronic kidney disease.
View Article and Find Full Text PDFInnovative technique of corking the lumen of an intraoperatively decompressed turgid gall bladder with surgical gauze to prevent gall bladder stone/bile spillage during a laparoscopic cholecystectomy.
J Minim Access Surg
January 2025
Department of Minimal Access, GI, Bariatric and Robotic Surgery, Apollo Speciality Hospital, Bengaluru, Karnataka, India.
Technical difficulties are often encountered in a laparoscopic cholecystectomy where a tense/distended/ turgid gall bladder prevents the surgeon from grasping the gall bladder properly which therefore necessitates the decompression of the turgid gall bladder. However, even if intraoperative decompression is done, the spillage of remnant stones, bile or fluid from the gall bladder is a possibility which can lead to undue complications. This is where following the simple technique of using a gauze piece with a radio-opaque marker to occlude the decompression puncture site helps in performing a safe decompression thereby preventing bile, fluid or stone spillage.
View Article and Find Full Text PDFUnderstanding the balance between plastic and persistent traits in the dyslexic brain is critical for developing effective interventions. This longitudinal intervention study examines the Visual Word Form Area (VWFA) in dyslexic and typical readers, exploring how this key component of the brain's reading circuitry changes with learning. We found that dyslexic readers show significant differences in VWFA presence, size, and tuning properties compared to typical readers.
View Article and Find Full Text PDFLight is essential for photosynthesis; however, excess light can increase the accumulation of photoinhibitory reactive oxygen species that reduce photosynthetic efficiency. Plants have evolved photoprotective non-photochemical quenching (NPQ) pathways to dissipate excess light energy. In tobacco and soybean (C plants), overexpression of three NPQ genes, e ( V DE), ( P sbS), and ( Z EP), hereafter VPZ, resulted in faster NPQ induction and relaxation kinetics, and increased crop yields in field conditions.
View Article and Find Full Text PDFElucidating ancestry-specific structures in admixed populations is crucial for comprehending population history and mitigating confounding effects in genome-wide association studies. Existing methods for elucidating the ancestry-specific structures generally rely on frequency-based estimates of genetic relationship matrix (GRM) among admixed individuals after masking segments from ancestry components not being targeted for investigation. However, these approaches disregard linkage information between markers, potentially limiting their resolution in revealing structure within an ancestry component.
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