BACKGROUND/PURPOSE: Many studies on ex-preterm babies were conducted to evaluate their respiratory sequelae, but, to our knowledge, the condition described in this paper was never reported before and is not included in the classifications of thoracic anomalies proposed so far.METHODS: Clinical data and images of a novel thoracic deformity...
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2020 (v1)PublicationUploaded on: April 14, 2023
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2020 (v1)Publication
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Uploaded on: April 14, 2023 -
2018 (v1)Publication
Mutations of the COPA gene cause an immune dysregulatory disease characterised by polyarticular arthritis and progressive interstitial lung disease with pulmonary haemorrhages. We report the case of a young girl that presented at age 3 with polyarticular arthritis, chronic cough and high titer rheumatoid factor. Radiologic imaging showed...
Uploaded on: April 14, 2023 -
2024 (v1)Publication
PurposeThis study aimed to assess the real-world management of achondroplasia in Italy.MethodsTwo online surveys addressed to (1) parents/caregivers of individuals with achondroplasia and (2) Italian clinicians managing individuals with achondroplasia were conducted to assess real-world perspectives on achondroplasia management. Both surveys...
Uploaded on: July 3, 2024 -
2019 (v1)Publication
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Uploaded on: April 14, 2023