RESUMO
An inter-disciplinary approach to the assessment and management of dysphagia is essential. A partnership between speech and language therapists (SLT) and nurses combines in-depth experience of dysphagia with the holistic knowledge of the patient. Nurses in acute, rehabilitation and mental health settings are trained by SLTs to use a locally-developed screening tool. This allows the nurse to carry out a basic screening assessment when dysphagia is identified, start an interim feeding regime and monitor the patient's progress. Simple or short-term dysphagia can be managed by the dysphagia trained nurses (DTNs). Experience, qualitative and quantitative measurement has shown benefits. Audit results enable us to share our experiences and to plan for future development of the project including a formal validation of the tool.
Assuntos
Transtornos de Deglutição/terapia , Profissionais de Enfermagem/educação , Patologia da Fala e Linguagem , Transtornos de Deglutição/enfermagem , Humanos , Projetos PilotoRESUMO
Alagille syndrome (AGS) is an autosomal dominant disorder characterized by abnormal development of the liver, heart, skeleton, eye, and face. Mutations in the Jagged1 gene (JAG1) have been found to result in the AGS phenotype and both protein truncating mutations and missense mutations have been identified. Using single stranded conformational polymorphism analysis we have screened 22 AGS affected individuals from 19 families for mutations within Jagged1. Twelve distinct Jagged1 mutations were identified in 15 (68.2%) of the 22 AGS cases, seven of which are novel. The mutations include three small deletions (25%), two small insertions (16.6%), three missense mutations (25%), two nonsense mutations (16.6%), and two splice-site mutations (16.6%). These mutations are spread across the entire coding sequence of the gene and most are localized to highly conserved motifs of the protein predicted to be important for Jagged1 function. One-half of the mutations found in this study are located between exons 9 and 12, a region constituting only 12% of the coding sequence. A splice-donor site mutation in intron 11 was shown to cause aberrant splicing of Jagged1 mRNA, consequently terminating translation prematurely in exon 12. The results of this study are consistent with the proposal that either haploinsufficiency for wild type Jagged1 and/or dominant negative effects produced by mutated Jagged1 are responsible for the AGS phenotype.
Assuntos
Síndrome de Alagille/epidemiologia , Síndrome de Alagille/genética , Mutação/genética , Proteínas/genética , Processamento Alternativo/genética , Substituição de Aminoácidos/genética , Austrália/epidemiologia , Proteínas de Ligação ao Cálcio , Linhagem Celular Transformada , Análise Mutacional de DNA , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intercelular , Proteína Jagged-1 , Masculino , Proteínas de Membrana , Mutação de Sentido Incorreto/genética , Linhagem , Vigilância da População , Sítios de Splice de RNA/genética , Deleção de Sequência/genética , Proteínas Serrate-JaggedRESUMO
Alagille syndrome (AS) (arteriohepatic dysplasia, Alagille-Watson syndrome) is a multi-system disorder with hepatic, skeletal, eye, cardiac and renal manifestations. It results from mutation of the JAG1 gene, located on chromosome 20, which encodes a ligand for Notch receptor(s). The interactions of Notch receptors and their ligands are crucial in controlling cell fate decisions in a variety of developmental processes. AS varies in its severity, even in the same family, from asymptomatic gene carriers through to lethality due to inoperable cardiac or end-stage liver disease. However, advances in medical and surgical therapy have improved the prognosis at the severe end of the spectrum. It is hoped that the enhanced understanding of the biology of AS resulting from the cloning of the JAG1 gene will enable us to develop additional strategies for more effective treatments.
