Publications by authors named "H McDevitt"
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.
Background: In cases of fractures in children with suspicion of non-accidental injury (NAI), biochemical markers of calcium homeostasis should be performed.
Objectives: To describe the pattern of biochemistry in children with fractures NAI is suspected.
Participants And Setting: Children ≤2 years of age who had undergone a skeletal survey as part of a child protection investigation where 1/+ fracture was identified over a ten-year period (2012-2021) at the Royal Hospital for Children, Glasgow.
Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent hypoglycaemia in infants and young children caused by inappropriate insulin over-secretion. CHI is of heterogeneous aetiology with a significant genetic component and is often unresponsive to standard medical therapy options. The treatment of CHI can be multifaceted and complex, requiring multidisciplinary input.
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- POH is a rare genetic disorder that leads to abnormal bone growth in the skin and subcutaneous tissues, typically caused by mutations in a specific gene and usually presents in infancy.
- The case described involves a male patient with subcutaneous calcium deposits linked to parenteral nutrition, and genetic testing identified a new, unreported variant linked to POH.
- Despite various treatments like bisphosphonates and physiotherapy, only partial mobility improvement was noted, highlighting the need for further research into alternative therapies for this condition.
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Ther Adv Musculoskelet Dis
March 2022
Background: Achondroplasia is the most common short-limbed skeletal dysplasia resulting from gain-of-function pathogenic variants in fibroblast growth factor receptor 3 () gene, a negative regulator of endochondral bone formation. Most treatment options are symptomatic, targeting medical complications. Infigratinib is an orally bioavailable, FGFR1-3 selective tyrosine kinase inhibitor being investigated as a direct therapeutic strategy to counteract FGFR3 overactivity in achondroplasia.
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