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1.
Injury ; 50(11): 1816-1825, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31353094

RESUMO

PURPOSE: The incidence of invasive treatment of rib fracture has increased significantly over the last decade however the evidence of improved patient outcomes to support this is lacking. A systematic review was performed to identify patient reported outcome measures (PROMs) used in the assessment of outcomes following chest wall injury. The quality of evidence for the psychometric properties of the identified PROMs was graded using the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) methodology. METHODS: Rib fracture studies measuring patient reported outcomes were identified using PubMed/Medline, EMBASE, AMED and PsycINFO. Methodological quality of measurement properties was evaluated with the COnsensus-based Standards for selection of health status Measurement INstruments (COSMIN) checklist. RESULTS: A total of 64 studies were identified including 19 different PROM instruments. Domains included in the reported PROMs included pain, breathlessness, general health quality of life, physical function and physiological health. No rib fracture specific PROM was identified. The most frequently reported instrument was the SF-36 reporting overall quality of life (HRQoL) although there was very low quality evidence for its content validity. There was low quality evidence to support good content validity for the Medical Research Council (MRC) dyspnoea scale, Brief Pain Index (BPI) and McGill Pain Questionnaire (MPQ). No PROM had undergone validation in a rib fracture population. The overall quality of the PROM development studies was poor. While we were unable to identify a clear "gold standard", based on the limited current evidence, we recommend that the EQ-5D-5L is used in combination with the MRC and BPI or MPQ for future rib fracture studies. CONCLUSION: The lack of validated outcome measures for rib fracture patients is a significant limitation of the current literature. Further studies are needed to provide validated outcome measures to ensure accuracy of the reported results and conclusions. As interventions for rib fractures have become more common in both research and clinical practice this has become an urgent priority.


Assuntos
Lista de Checagem , Fraturas das Costelas/reabilitação , Guias como Assunto , Humanos , Medidas de Resultados Relatados pelo Paciente , Psicometria , Qualidade de Vida , Fraturas das Costelas/fisiopatologia , Fraturas das Costelas/cirurgia
2.
Br J Hosp Med (Lond) ; 80(6): 317-319, 2019 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-31180783

RESUMO

Potential injury to the cervical spine should be considered in all patients who have suffered blunt trauma. Early spinal immobilization is required to minimize the risk of secondary spinal cord injury. However, prolonged immobilization is associated with its own morbidity. Clinical evaluation of the cervical spine in confused or unconscious adult trauma patients is challenging, and imaging is required to safely 'clear' the cervical spine. Despite the existence of national guidelines, significant variations in practice exist. This article summarizes the evidence for the initial stabilization of the cervical spine in adult trauma patients. It reviews the imaging modalities available and the criteria for discontinuation of cervical spine immobilization.


Assuntos
Vértebras Cervicais/lesões , Imobilização/métodos , Traumatismos da Medula Espinal/diagnóstico , Inconsciência , Ferimentos não Penetrantes/diagnóstico , Ferimentos não Penetrantes/terapia , Vértebras Cervicais/diagnóstico por imagem , Protocolos Clínicos , Humanos , Imobilização/efeitos adversos , Imageamento por Ressonância Magnética , Guias de Prática Clínica como Assunto , Traumatismos da Medula Espinal/diagnóstico por imagem , Traumatismos da Medula Espinal/terapia , Tomografia Computadorizada por Raios X , Centros de Traumatologia , Ferimentos não Penetrantes/diagnóstico por imagem
3.
Neurobiol Aging ; 39: 220.e1-7, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26803359

RESUMO

Early-onset Alzheimer's disease (EOAD) can be familial (FAD) or sporadic EOAD (sEOAD); both have a disease onset ≤65 years of age. A total of 451 sEOAD samples were screened for known causative mutations in exons 16 and 17 of the amyloid precursor protein (APP) gene. Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of screening EOAD patients for causative mutations. Additionally, we document an intronic 6 base pair (bp) deletion located 83 bp downstream of exon 17 (rs367709245, IVS17 83-88delAAGTAT), which has a nonsignificantly increased minor allele frequency in our sEOAD cohort (0.006) compared to LOAD (0.002) and controls (0.002). To assess the effect of the 6-bp deletion on splicing, COS-7 and BE(2)-C cells were transfected with a minigene vector encompassing exon 17. There was no change in splicing of exon 17 from constructs containing either wild type or deletion inserts. Sequencing of cDNA generated from cerebellum and temporal cortex of a patient harboring the deletion found no evidence of transcripts with exon 17 removed.


Assuntos
Doença de Alzheimer/genética , Precursor de Proteína beta-Amiloide/genética , Éxons/genética , Estudos de Associação Genética , Mutação , Idoso , Pareamento de Bases/genética , Estudos de Coortes , Feminino , Deleção de Genes , Frequência do Gene , Testes Genéticos , Humanos , Íntrons/genética , Masculino , Pessoa de Meia-Idade , Análise de Sequência de DNA
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