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1.
Int J Nurs Pract ; 28(2): e12984, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34101310

RESUMO

AIM: To describe the facilitators and barriers perceived by healthcare teams after the implementation of the Awakening, Breathing, Coordination, Delirium monitoring/management and Early mobility bundle in an intensive care unit in Italy. This multicomponent intervention strategy has been associated with lower probabilities of delirium, improved functional outcomes and shorter duration of mechanical ventilation. METHODS: A survey study conducted between June 2015 and May 2016 explored variables related to intensive care unit team members: perceptions of delirium; knowledge of the Awakening, Breathing, Coordination, Delirium monitoring/management and Early mobility bundle; teamwork perception and resource availability. RESULTS: Most of the participants affirmed having reasonable knowledge of delirium, outcomes of delirious episodes, Awakening, Breathing, Coordination, Delirium monitoring/management and Early mobility bundle components and their effectiveness. Low coordination between healthcare professionals was identified as a barrier. Overall, the time elapsing from the beginning of implementation of the bundle determined an increase in levels of awareness and confidence in the application of the bundle protocol and the Confusion Assessment Method Intensive Care Unit scale. CONCLUSION: Issues with the Awakening, Breathing, Coordination, Delirium monitoring/management and Early mobility bundle relating to coordination, management and interdisciplinary ward rounds are critical and should be remedied and monitored. This study could provide the basis for improving bundle implementation strategies and surveying levels of progression in other intensive care units.


Assuntos
Delírio , Cuidados Críticos , Delírio/terapia , Humanos , Unidades de Terapia Intensiva , Monitorização Fisiológica , Respiração Artificial
2.
Int J Audiol ; 50(2): 133-8, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21114417

RESUMO

OBJECTIVE: the aim of this work was to evaluate the possible different impacts of genetic and environmental factors in childhood deafness in northern Cameroon. GJB2 mutations are responsible for more than half of all cases of prelingual nonsyndromic recessive deafness in Caucasians, representing the most important deafness-causing factor in the industrialized world. Other genes such as MTRNR1 are also involved. In sub-Saharan Africa, environmental factors seem to dominate genetic contributions, but few studies on the etiology of deafness in Africa are available for comparison. DESIGN: prospective cross sectional study. STUDY SAMPLE: we performed a molecular screen of the GJB2 and MTRNR1 genes in 70 deaf children and 67 unaffected controls in Maroua (Cameroon) and a literature analysis focused on deafness epidemiology in developing countries. RESULTS: no GJB2 mutations emerged, and only a single MTRNR1 variant that may be pathogenic was found. CONCLUSION: environmental factors turn out to be more relevant than genetic factor in the Maroua population.


Assuntos
Conexinas/genética , Surdez/genética , RNA Ribossômico/genética , Camarões , Criança , Pré-Escolar , Conexina 26 , Estudos Transversais , Feminino , Genes Mitocondriais , Testes Auditivos , Humanos , Masculino , Estudos Prospectivos
3.
Genet Test Mol Biomarkers ; 13(2): 209-17, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19371219

RESUMO

Mutations in the GJB2 gene, which encodes the gap-junction protein connexin 26, are the most common cause of nonsyndromic hearing loss (NSHL) and account for about 32% of cases. We analyzed 734 patients and identified mutations in 474/1468 chromosomes. Thirty-six different mutations and five polymorphisms were found in 269 NSHL subjects. Our data confirm 35delG as the most frequent GJB2 mutation in the Italian population, accounting for about 68% of all the mutated GJB2 alleles analyzed. We also identified two novel variants: the V156I mutation and the C>A change at nucleotide 684 in the 3'UTR of the gene. The GJB6 gene deletion, del(GJB6-D13S1830), which can cause HL in combination with GJB2 mutations in trans, was identified in three patients, while the del(GJB6-D13S1854) was not observed in our cohort of patients. We collected audiometric data from 200 patients with biallelic DFNB1 mutations or with dominant mutation in GJB2 to determine the degree of HL to correlate the genotypes with the audiological phenotypes.


Assuntos
Conexinas/genética , Genótipo , Perda Auditiva/genética , Mutação , População Branca/genética , Distribuição por Idade , Alelos , Audiometria , Estudos de Coortes , Conexina 26 , Éxons , Frequência do Gene , Genes Dominantes , Genes Recessivos , Heterozigoto , Homozigoto , Humanos , Itália , Polimorfismo Genético , Análise de Sequência de DNA , Índice de Gravidade de Doença
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