Some of the affected children also suffer from defects in the limbs, brain, kidneys and lungs. Depending on the severity of their disease and its underlying cause, children suffering with craniosynostosis survive from as little as a few days to as long as early adulthood.
Led by Dr Mohammad Hajihosseini, the UEA scientists focused on Apert Syndrome - the most severe of the craniosynostosis range of diseases that is caused by mutations in a gene called Fibroblast Growth Factor Receptor 2 (FGFR2). They identified a key offending molecule - FGF10 and demonstrated for the first time that 'dampening down' the levels of this offending molecule can reverse the effects of the disease.
Published in the journal 'Developmental Dynamics', the findings are the culmination of five years work and vastly increase our understanding of this tragic childhood disease.
"The next step is to research how best to translate this discovery into an effective treatment," said Dr Hajihosseini. "Given the appropriate funding, in the not too distant future a gel or similar vehicle could be developed that can be surgically applied to the fusing joints of the skull - thus reversing the effects of the disease."
uea.ac/
Five health care workers developed influenza-like illness during admission of the presumed index patient. However, samples for influenza testing were not obtained from any of these health care workers, so their role in possibly contributing to this transmission could not be confirmed.
"Early identification and prolonged isolation precautions appear prudent in the care for infected immunocompromised patients to prevent [hospital] influenza virus outbreaks. This study confirmed that circulating H274Y-mutated A(H1N1) viruses can retain significant pathogenicity and lethality, as shown in these elderly or immunocompromised patients with lymphocytopenia, underlining the urgency for the introduction of new effective antiviral agents and therapeutic strategies," the authors write.
They add that because the study consisted of a small number of patients, the findings require careful interpretation and do not allow conclusions on the frequency of this complication in hospital settings.
jama.ama-assn/