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Intravitreal enzyme replacement therapy slows retinopathy in late infantile ceroid lipofuscinosis type 2.
Neuropediatrics
January 2025
Department of Inborn Errors of Metabolism, Ludwig-Maximilians-University Munich, University Hospital, Munich, Germany.
Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the TPP1 gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.
View Article and Find Full Text PDFMedicare Part D: Major Shifts With the Inflation Reduction Act and a Way Forward.
J Am Geriatr Soc
January 2025
Borun Center, Division of Geriatrics, University of California Los Angeles, Los Angeles, California, USA.
The Inflation Reduction Act (IRA) of 2022 introduced major changes in the Part D benefit that aim to improve medication access and correct several of the financial misalignments in the current Part D benefit. The changes address financial obligations of Medicare beneficiaries, the federal government, Part D plan sponsors (i.e.
View Article and Find Full Text PDFCharacteristics and Outcomes of Descemet Membrane Endothelial Keratoplasty for Treatment of Failed Endothelial Keratoplasty.
Cornea
November 2024
Price Vision Group, Indianapolis, IN.
Purpose: To evaluate Descemet membrane endothelial keratoplasty (DMEK) for failed endothelial keratoplasty (EK).
Methods: We reviewed 362 consecutive DMEK cases for failed EK (Descemet stripping endothelial keratoplasty (DSEK) or DMEK), 118 for early EK failure, and 244 for late failure in 333 eyes of 323 patients without penetrating keratoplasty. Rejection and graft survival rates were assessed with Kaplan-Meier analysis.
Clinical and ultrasound assessment of body composition in preterm infants at discharge: an observational study.
BMJ Paediatr Open
January 2025
Institut de Recerca Sant Joan de Déu, Barcelona, Catalunya, Spain.
Objectives: While the target of growth of very preterm infants (VPIs) during Neonatal Intensive care unit (NICU) admission is still controversial, the most accepted objective is that they should follow their intrauterine trajectory in terms of growth and body composition (BC). BC is difficult to measure in clinical daily routine but proxies like body ratios and skinfolds have been used. Prenatal and postnatal factors can influence the growth and BC of VPIs in the NICU.
View Article and Find Full Text PDFNeurosteroid replacement therapy using tiagabine and zuranolone restores cerebellar neurodevelopment and reduces hyperactive behaviour following preterm birth.
J Dev Orig Health Dis
January 2025
School of Biomedical Sciences and Pharmacy, University of Newcastle, Newcastle, Australia.
Preterm birth exposes the neonate to hypoxic-ischaemic and excitotoxic insults that impair neurodevelopment and are magnified by the premature loss of placentally supplied, inhibitory neurosteroids. The cerebellum is a neuronally dense brain region, which undergoes critical periods of development during late gestation, when preterm births frequently occur. We propose that neurosteroid replacement therapy using tiagabine and zuranolone will protect the cerebellum against preterm-associated insults.
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