RESUMO
The rapid evolution and wide applicability of genomic testing means that medical practitioners outside the field are not appropriately skilled to understand the utility of genomics for their patients. Rotating junior doctors through genomic medicine provides them with the hands-on experience necessary to understand the complexities in this field. In this study, we analysed the training experience of 12 hospital medical officers who rotated through genomic medicine at the Royal Melbourne Hospital. Here, we demonstrate that immersion in clinical genomics aids in mainstreaming genomics knowledge.
Assuntos
Genômica , Medicina , Currículo , Hospitais , Humanos , Corpo Clínico HospitalarRESUMO
Hereditary haemorrhagic telangiectasia is characterised by abnormal blood vessel formation, producing telangiectasia and arteriovenous malformations in multiple organs. Information regarding possible renal involvement in hereditary haemorrhagic telangiectasia is limited. This study assessed renal structure and function in 11 patients with genetically confirmed diagnosis and known arteriovenous malformations in lung, liver, gastrointestinal tract or brain. All had significant current or past epistaxis. Despite the vascularity of the kidneys, we found no evidence of renal involvement. This observation warrants further consideration.
Assuntos
Malformações Arteriovenosas/diagnóstico , Rim/anormalidades , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/genética , Adulto , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/genética , Feminino , Testes Genéticos , Humanos , Rim/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação/genética , Fenótipo , Fatores de Risco , Telangiectasia Hemorrágica Hereditária/complicações , UltrassonografiaRESUMO
We characterized the NK cell phenotype and function in three family members with Hereditary Hemorrhagic Telangiectasia (HHT) due to heterozygous SMAD4 mutations. Loss-of-function mutation in this gene did not induce developmental effects to alter CD56bright or CD56dim NK cell subset proportions in peripheral blood; and did not result in major differences in either their IL-15-induced proliferation, or their cytokine secretion response to TGF-ß1. These data suggest that SMAD4 plays a redundant role in downstream TGF-ß signaling in NK cells.