Publications by authors named "H J Saal"
Article Synopsis
- Achondroplasia is a genetic condition that leads to significant short stature and various medical challenges, and infigratinib is a new treatment being tested for children affected by this disorder.
- A phase 2 study involved 72 children aged 3 to 11, testing varying doses of infigratinib over 6 months, with adjustments possible during a further 12-month period, focusing on the safety and height growth of the participants.
- Results indicated that all participants experienced mild to moderate side effects, but none stopped treatment; most significantly, children in the highest dose group showed a notable increase in height growth compared to baseline, suggesting the treatment could be effective.
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.
Am J Med Genet C Semin Med Genet
December 2024
Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF-1 microdeletion syndrome followed at two large Neurofibromatosis Clinics.
View Article and Find Full Text PDFWe frequently interact with textured surfaces with both our feet and hands. Like texture's importance for grasping, texture perception via the foot sole might provide important signals about the stability of a surface, aiding in maintaining balance. However, how textures are perceived by the foot, and especially under the high forces experienced during walking, is unknown.
View Article and Find Full Text PDFBackground: Vosoritide is a recombinant C-type natriuretic peptide analogue that increases annualised growth velocity in children with achondroplasia aged 5-18 years. We aimed to assess the safety and efficacy of vosoritide in infants and children younger than 5 years.
Methods: This double-blind, randomised, placebo-controlled, phase 2 trial was done in 16 hospitals across Australia, Japan, the UK, and the USA.